European Conference on Rare Diseases & Orphan Products ... · research into RDs which has been...

EuropeanCommission

European Conference on RareDiseases & Orphan Products

2014 Berlin

Chafea Conference Grant Nr:

20134309

Acronym:

ECRD 2014

FINAL REPORT

Written by: Sharon Ashton, Yann Le Cam, Flaminia MacchiaNovember - 2014

Final Report — Chafea Conference Grant Nr: 20134309

Table of ContentsTABLE OF CONTENTS 2

DECLARATION BY THE CONFERENCE COORDINATOR 4

SPECIFICATION OF THE CONFERENCE GRANT 5

ACKNOWLEDGEMENTS 6

FINAL PUBLISHABLE EXECUTIVE SUMMARY 7

INITIAL SCOPE OF THE CONFERENCE 11

Background and conference scope 11

Objectives of the conference 12

Targeted participants 12

DELIVERABLES OF THE CONFERENCE 15

Deliverable 01 15

Deliverable 02 15

Deliverable O3 15

Deliverable 04 16

Deliverable 05 16

Deliverable 06 16

STEERING COMMITTEE 18

Composition 18

Short description of work 20

Problems and changes occurred 20

SCIENTIFIC COMMITTEE 21

Composition 21

Short description of work 23

Problems and changes occurred 24

CONFERENCE IMPLEMENTATION 25

Final Conference programme 25

Organization and planning 29

Participants 29

Sponsorship 33

Marketing and dissemination 34

Financial management 35

POST-CONFERENCE FOLLOW-UP 36

Dissemination activities after the conference 36

Conference website 36

Publication, Abstracts, Articles 36

Evaluation of the conference 37

Participant feedback 37

Process evaluation 40

Output evaluation 42

Outcome evaluation 43

Discussion in relation to conference objectives 44

Major results and key findings 54

Target groups and added value 56

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Major problems and lessons learned 57

Future recommendations 57

FURTHER REMARKS 59

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Declaration by the conference coordinator

I, as conference coordinator of this conference grant and in line with the obligations

stated in the Grant Agreement declare that:

• The report represents an accurate description of the work carried out under this

conference grant for this reporting period;

• To my best knowledge, the financial statements that are being submitted as part

of this report are in line with the actual work carried out and are consistent with

the report on the resources used for the project and, if applicable, with the

certificate of the financial statement.

Name of the conference coordinator:

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Date:

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Specification of the conference grant

Conference title: European Conference on Rare Diseases & OrphanProducts 2014 Berlin

Acronym: ECRD 2014

Date(s) of the 9 — 10 May 2014Conference:

Starting date of the 01/01/2014grant agreement:

Duration of the grant 8 monthsagreement (inmonths):

EC co-funding: EUR 100,000.00

Priority area: HEALTH

Sub-action: 3. GENERATE AND DISSEMINATE HEALTH INFORMATIONAND KNOWLEDGE

Action: European Conference on Rare Diseases & Orphan Products2014 - ECRD 2014

Main partner European Organisation for Rare Diseases — EURORDISinformation and Sharon Ashtoncontact person: [email protected]

Keywords (using MESH terms):1. Rare diseases and disorders2. Health system3. Patients’ rights4. Healthcare Accessibility5. Pharmaceuticals

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Acknowledgements

The European Organisation for Rare Diseases (EURORDIS) as the conference organiser of

the ECRD 2014 wishes to thank the following institutions and individuals for their active

collaboration.

Co-organised by DIA Europe

Co-funded by the Health Programme of the European Union

With the support of the AFM Téléthon

In partnership with (in alphabetical order):

• Canadian Organization for Rare Disorders (CORD)

• EuropaBio

• European Biopharmaceutical Enterprises (EBE)

• European Federation of Internal Medicine (EFIM)

• European Medicines Agency (EMA)

• European Society for Human Genetics (ESHG)

• German National Alliance for Chronic Rare Diseases (ACHSE)

• National Organization for Rare Disorders (NORD)

• Orphanet

We would also like to thank the Co-Chairs of the Scientific Committee, Scientific

Committee members, Steering Committee members, Theme Leaders, Session Chairs,

Speakers and all participants.

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Final Publishable Executive Summary

The European Conferences on Rare Diseases & Orphan Products (ECRD) have beensuccessfully organised by EURORDIS since 2001. The conference has grown over theyears, in number of participants, quality and scope of content, dissemination, andimpact. It is considered today “The Conference” of reference on rare diseases (RDs) inEurope and even beyond. Its importance and recognition on a political level is recognisedthrough its explicit mention in the “Commission Communication on Rare Diseases:Europe’s challenges”. The partnerships with the EUCERD, EMA, ORPHANET, EuropaBioEBE/EFPIA, NORD (USA), CORD (Canada), European Society for Human Genetics(ESHG), ACHSE (German National Alliance for Rare Diseases) and collaboration with theDrug Information Association (DIA), added further impetus to the conference.

Scope and objectives of ECRD2O14

Scope: ECRD covers the full spectrum of policies having an impact on the RD5community at large: from public health, information, health care, social care, research,drug development, orphan products, innovation, and support to patients and families atEuropean, national and regional levels.General objective: to serve as a unique forum to share knowledge, gatherrepresentatives from the whole RDs community, from all European countries, and bringtogether all relevant stakeholders: policy makers, patients and their representatives,academics, health care professionals, and industry representatives.Specific objectives: 1.To disseminate up-to-date health information related to the RDsenvironment to all stakeholders: patients and patients’ representatives, volunteers,academics, researchers, health care professionals, industry and policy makers); 2.Todemonstrate the importance of EU actions in the field of RDs and review progress; 3.Toelaborate strategies and mechanisms for developing further exchange of informationbetween all relevant stakeholders at national and European levels; 4.To exchangeknowledge and best practices on all relevant health issues related to the RDsenvironment; 5.To sustain efforts for RDs policies at national and European levels; 6.Tostimulate dialogue on policies for RDs in Member States (MSs) having recently joined theEU; 7.To present specific, achievable objectives to reduce health inequalities for RD5patients.

Description of work

Programme:The Opening & Plenary sessions allowed speakers to elaborate and demonstrate in-depththe importance of EU actions in the field of RDs. Every speaker made a reference todifferent aspects of EU actions in the field of RDs, such as the CommissionCommunication and Council Recommendation on Rare Diseases; the EU funding forresearch into RDs which has been steadily growing in the last 15 years; theachievements of the IRDiRC as an international collaborative initiative in which Europehas a strong co-leadership; the support to national plans and strategies on RDs from theEUROPLAN project and the joint Action on RD5; the EU platform for RDs patients’registration to be established together with the Joint Research Centre of the EuropeanCommission; the Cross Border Health Care Directive and the legal basis it provides forCentres of Expertise and European Reference Networks; the EU Orphan MedicinalProducts Regulation and the impetus it gives to orphan drugs development; the work ofthe EUCERD and of the subsequent Commission Expert Group on Rare Diseases. Theremaining 1.5 days of the Conference was dedicated to parallel sessions developing thespecific themes listed below: 6 simultaneous tracks of 6 sessions each. A total of 36sessions were proposed. Each session lasted 90 minutes.Theme 1: Improving Healthcare ServicesTheme 2: Knowledge Generation and Dissemination

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Theme 3: Research from Discovery to PatientsTheme 4: State of the Art and Innovative Practices in Orphan ProductsTheme 5: Emerging Concepts and Future Policies for RDs Therapies

Theme 6: Beyond Medical Care

Evaluation activities:A comprehensive evaluation form was distributed to all participants. It was also made

available via the mobile application developed for the conference and downloaded by

44% of conference participants (338 people). The form was also converted to an online

survey and emailed to all participants after ECRD. The evaluation questions were linked

to the planning/organisation, quality of the programme, Conference venue and selection

of Berlin. In addition, a short evaluation form was made available in printed format

during each session with questions linked to the topic, session chair and speakers. These

short evaluation forms were also made available via the mobile application. A total of 184

evaluation forms (124 full and 60 short) were submitted both on-site and following the

online survey sent to participants after the conference (16.2% response rate). A total of

29 countries were represented among the completed evaluation forms. The majority of

respondents were patient representatives. The overall assessment of ECRD2O14 by

respondents was very positive: 95% rated ECRD “good” or “excellent”. As to ECRD

meeting personal expectations, this was largely positive with 25% of respondents stating

that it had exceeded their expectations and 73% of respondents stating that it had

equalled their expectations. General aspects of ECRD ranking highest included

“opportunities for networking” (94% rating ‘good’ or ‘excellent’) and “quality of the

speakers” (92% rating ‘good’ or ‘excellent’). The majority of respondents considered the

website as either “good” or “excellent”, with 67% rating the quality of the website’s

information as excellent.

Dissemination activities:1) Prior to the conference: “Save the date” announcements were sent by email and

flyers have been distributed, between April 2013 and the date of the conference, by

EURORDIS and partners at conferences/events related to RD5 and/or orphan products,

throughout Europe and in the US. The existing dedicated conference website was

upgraded and included full details about the venue, programme, abstract and poster

submissions, patient fellowship programme, registration and other useful information.

The website address was disseminated to the full EURORDIS database and via our

partner groups. The Call for Posters for ECRD 2014 Berlin, preliminary and advanced

programmes were broadly disseminated to the full EURORDIS database, via our partner

groups and featured on the dedicated conference website and those of our event

partners. Regular electronic mailings, targeted specifically to each category of

participants, were broadly disseminated and a special lead story featured ECRD 2014 in

November 2013. The logos of all co-funders were visible on the website and on all

announcements. All participants to ECRD received in their conference bags copies of the

final programme, list of participants, EURORDIS brochures, Rare Disease Day flyer,

RareConnect brochures, EUPATI brochures, registries book and evaluation questionnaire.

Copies of other documents were also made available on tables in the conference venue

for all participants at the conference including brochures about other relevant EU Funded

projects and EURORDIS Fact Sheets. A press release was disseminated on 9 May 2014,

the first day of the conference, to the full EURORDIS database of more than 7000

contacts, including health media throughout the world.2) After the conference: announcements about the availability of the presentations on

the official ECRD website within 2 weeks after the conference by EURORDIS and our

event partners. A special supplement of the online Orphanet Journal of RDs has been

accepted for publication and will feature a selection of 49 abstracts submitted by

speakers and poster presenters to ECRD organisers. This will be promoted by EURORDIS

and its event partners. The Executive Conference Summary will be published on the

ECRD website and promoted by EURORDIS and our event partners. Printed copies will be

sent to selected persons at the EC and the EMA, the EURORDIS Board of Directors, ECRD

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2014 Scientific Committee and Steering Committee members. All of the above mentionedcommunications wilt include the logos of all co-funders and partners.

Strategic relevance/contribution to the EU Health Programme:

An estimated 29 million people are living with RDs in the EU. Due to the low prevalenceof RDs, efforts at national level must be complemented by EU strategy to better addresspatients’ needs: ECRD offers a unique opportunity to gather and share the existingexpertise. In each MS, patients are facing the same challenges: access to information,diagnosis, care, medicinal products and therapies, as well as to appropriate medical andsocial support. Increasing awareness on RD5, stimulating cooperation and knowledge-sharing at the EU level, are important elements of the strategy to ensure continuity ofpolicies on RDs in the EU. To this end, ECRD is structured in such a way as todemonstrate the importance of EU actions in the field of RDs, review progress to date,take note of the adoption of National Plans on RD5. With its plenary and parallel sessionsaddressing specific issues, knowledge sharing is encouraged; exchange of experiencesand best practices are integrated into the programme; cooperation and networking arestimulated and awareness is raised while ensuring continuity of action and avoidingduplication of efforts. Indeed, less advanced regions in this field do benefit fromexperience sharing with other areas in Europe. In this way, ECRD meets the priorities ofthe EU Health Programme by generating and disseminating health information andknowledge on RD5 and supporting MSs efforts in the implementation of their currentNational Plans and strategies on RDs, thus reducing inequalities. Patients, policy-makersand relevant stakeholders and will be provided with up-to-date information aimed athelping them to take welt informed decisions.

Outputs, outcomes and potential impact/use by target group

Main outputs & outcomes are:1. Gathering over 750 participants, from more than 40 countries, and allowing them tobenefit from the presentations of over 80 speakers; 2. Getting together all keystakeholders with a view at creating/maintaining a sense of community and fosteringdialogue; 3. Bringing key stakeholders to the same level of knowledge about policyorientations, concepts, priorities and emerging ideas as well as new challengesconcerning RDs, thus providing them with the most updated information so to enablethem to take well-informed decisions on issues affecting individual and collective health;4. Giving feedback to Member States and support/complement national efforts in view ofthe implementation of National Plans on RDs, as well as in view of the elaboration offuture strategies impacting the RDs field; 5. Supporting key stakeholders in the field ofRDs and identifying priority challenges based on updated information presented at ECRD;6. Strengthening the capacities of each participant in their respective field of activity; 7.Creating an atmosphere conducive to networking and promoting information exchange asgrounds for enhanced collaboration; 8. Stimulating patient representatives andprofessionals to work more together through complementary RDs networks; and 9.Involving new Member States in all phases of information collection, exchange anddissemination.

Main target groups and potential benefits:1. RDs patients & representatives will benefit from the knowledge and informationdisseminated about RDs policies ‘and actions at EU & national levels and will directlybenefit from the capacity-building workshops on the 1st day of ECRD, networkingopportunities and information exchange with other patients and stakeholders. 2.Academia & scientists active in the field of RD5 and in particular leading scientistsinvolved in EU-funded projects and all researchers listed on ORPHANET. They will get themost up-to-date information about policy orientations, concepts and priorities concerningRDs at EU level and benefit from the networking events. 3. Health professionals, inparticular the health professionals of Centres of Expertise identified through national

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plans of RDs and listed on ORPHANET and health professionals reached through Learned

Societies, such as the European Society of Human Genetics, European Federation of

Internal Medicine & the European Academy of Paediatrics. They will benefit from learning

more about RDs and from the experiences, best practices and forum for exchange of

ideas and networking. 4. Pharmaceutical and biotech industry reijresentatives involved in

orphan drug development will benefit from the knowledge and information disseminated

about policy orientations, concepts and priorities concerning RDs at European and

national levels and will directly benefit from the specific sessions on orphan products and

the networking opportunities with other patients and policy makers. 5. Policy makers at

national and EU levels, as well as representatives of Member States involved in different

relevant committees/Working Groups will benefit from all the knowledge gathered and

disseminated at the ECRD which will help making well-informed policy and strategy

decisions.

Conclusions and recommendations

The European regulatory and policy framework relevant to RD5 has substantially

improved in the last 15 years. Nevertheless, the challenges that the rare disease

community will have to face in order to ensure that current and future initiatives and

policies will optimise the existing opportunities for the concrete benefit of patients should

not be underestimated. The main focus now has to be placed on implementing the

existing improved legislative and regulatory framework in order to create real added-

value for patients and their families in their daily lives and improve their quality of life.

This improved framework also needs proportionally dedicated funding from the public

sector, as well as innovative approaches and mechanisms to address budget restrictions,

including public private partnerships. The need for inclusive collaboration between all

relevant stakeholders and the importance of the role of patients at various levels of

decision-making are important take home messages from the Conference, which is

recognised as being extremely needed and welcomed by all parties.

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Initial scope of the Conference

Background and conference scopeThe previous European Conferences on Rare Diseases (ECRD) have been successfullyorganised by EURORDIS since 2001 in the following locations:

2001 Copenhagen, Denmark2003 Paris-Evry, France2005 Luxembourg, Luxembourg2007 Lisbon, Portugal2010 Krakow, Poland2012 Brussels, Belgium2014 Berlin, Germany

The conference has grown over the years, in number of participants, quality of content,dissemination and impact, to be considered today as ‘The Conference” of reference onrare diseases in Europe and even beyond. Its importance and recognition on a politicallevel is recognised through its explicit mention in the Commission Communication on rarediseases.

The official partners of the ECRD 2014 Berlin included the EUCERD, EMA (in particular theCOMP), ORPHANET, EuropaBio-EBE, NORD (National Organisation for Rare DisordersUSA), CORD (Canadian Organisation for Rare Diseases), European Society for HumanGenetics (ESHG), EFIM (European Federation of Internal Medicine), ACHSE (GermanNational Alliance for Chronic Rare Diseases) along with collaboration with the DrugInformation Association (DIA). These partnerships serve to add further impetus to theConference and the conference programme.

The conference covers the full spectrum of policies having an impact on the rare diseasecommunity at large, from public health, information, health care, social care, research,drug development, orphan products, innovation, and support at European, national andregional levels.

Purpose of the conference (including scientific background)

The European Conference on Rare Diseases & Orphan Products (ECRD) represents aunique forum to share knowledge, gathering representatives from the whole rare diseasecommunity, from all European countries, and bringing together all relevant stakeholders:policy makers, patients and their representatives, academics, health care professionals,and industry representatives.

Since 2001, ECRD has been the reference platform providing state-of-the-art of the raredisease environment, monitoring and benchmarking initiatives, on a biennial basis.

The ECRD has become over the years “The Conference” of reference on rare diseasesthat the whole rare disease community expects and has gained undisputed politicalrecognition of its importance as expressed in the Governance and Monitoring chapter ofthe Commission Communication on Rare Diseases.

The broad partnership established since 2012 with the EUCERD, the EMA, Orphanet, EBEEuropaBio, NORD, ESHG and DIA will be maintained in 2014 and expanded to include theEuropean Federation of Internal Medicines (EFIM), CORD (Canadian Organization for RareDisorders) and ACHSE (German National Alliance for Chronic Rare Diseases) to addfurther impetus to this European Conference in Germany.

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In 2014, 25 EUROPLAN National Conferences organised by EURORDIS will have taken

place. These conferences aim at 1.Supporting the definition, adoption and

implementation of national plans/strategies for rare diseases; 2. Recommending set of

indicators for monitoring and evaluating the implementation of National measures; and

3. Reporting on current practices and relevant initiatives in the field of rare diseases. In

this context, ECRD 2014 will provide a unique and timely opportunity to take stock of the

situation in all Member States immediately after the 2013 deadline for adopting the

national plans, and bring together all the pieces of the rare disease environment puzzle,

at both national and EU levels.

The Conference will provide the platform for the synthesis and dissemination of all the

achievements made so far in the framework of the implementation of the Commission

Communication and Council Recommendation on Rare Diseases, including the EUCERD

Recommendations on Centres of Expertise, European Reference Networks, the Clinical

Added Value of Orphan Medicinal Products, Registries, as well as the scientific outputs of

the EUCERD Joint Action on rare diseases, the policy orientations developed within the

International Rare Disease Research Consortium (IRDiRC), and the outputs of the

process on Corporate Responsibility in the field of Pharmaceuticals in terms of patients’

access to orphan medicinal products.

The ECRD remains synergistic with national and regional conferences, enhancing and

giving visibility to the efforts of all stakeholders. There is no competition between the

ECRD and conferences at more local levels as they are complementary and mutually

reinforcing, while fully respecting initiatives of all. This is guaranteed by the participation

of EURORDIS to these other events and the cross-participation of key leaders both to

these events and to the ECRD planning.

Objectives of the conference

The objectives of the European Conference on Rare Diseases & Orphan Products are:

- To disseminate the most up-to-date health information related to the rare disease

environment to all relevant stakeholders (patients and, patients’ representatives,

academics, health care professionals, industry and policy makers);

- To demonstrate the importance of EU actions in the field of rare diseases and review

progress made to date;

- To elaborate strategies and mechanisms for developing further exchange of information

between stakeholders: people living with rare diseases, volunteers, health professionals,

policy makers, researchers and industry at national and EU levels;

- To exchange knowledge and best practices on all relevant health issues related to the

rare disease environment;

- To sustain efforts for rare disease policies at both the European and the national level;

- To stimulate dialogue on policies for rare diseases in some of the Member States having

recently joined the EU;

- To present specific, achievable objectives at both European and national levels in order

to reduce health inequalities for rare disease patients.

Targeted participantsThe target participants fall into 5 distinct categories which are briefly described below:

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1) All RD patients and patients representatives throughout Europe and beyond: they willbenefit from the knowledge and information disseminated about rare disease policies andactions at a European and national level and will also directly benefit from the capacity-building workshops on the first day of the Event, the networking opportunities andinformation exchange with other patients and stakeholders.

2) Academia & scientists active in the field of rare diseases and in particular leadingscientists involved in EU and E-Rare Funded Projects and all researchers listed onORPHANET: they are interested in learning the most up-to-date information about policyorientations, concepts and priorities concerning rare diseases at a European level andwho will benefit from the networking events.

3) Health professionals, in particular the health professionals of Centres of Expertiseidentified through national plans of rare diseases and listed on ORPHANET and healthprofessionals reached through Learned Societies, such as the European Society of HumanGenetics, European Federation of Internal Medicine & the European Academy ofPaediatrics: they are eager to learn more about rare diseases and benefit from theexperiences, best practices and forum for exchange of ideas and networking.

4) Pharmaceutical and biotech industry representatives involved in orphan drugdevelopment: they are interested in the knowledge and information disseminated aboutpolicy orientations, concepts and priorities concerning rare diseases at European andnational levels who will directly benefit from the sessions on orphan products and thenetworking opportunities with other patients and policy makers.

5) Policy makers from around Europe working in the health domain and representativesof Member States involved in different EMA Committees and European Commissionrelevant committees such as the EUCERD, the Committee on Cross Border Health Careand Corporate Responsibility in the field of Pharmaceuticals.

The Conference announcements and the Call for Posters will be disseminated toEURORDIS’ full database containing over 7000 qualified contacts including over 1900patient organisations and to the 4000 attendees of the 25 National Conferences takingplace in the context of the EUROPLAN 11/EUCERD Joint Action in 2012-2013, representingall stakeholders in the rare disease community who will be targeted by ourcommunications. This figure is based on our experience organising 15 NationalConferences in the context of EUROPLAN I which gathered 2400 participants.

Access for persons with disabilities will be facilitated.

Simultaneous translation of the plenary will be provided in up to 5 languages. Theconference is by no means restricted to Europeans. Participants from other parts of theworld are encouraged to attend.

A patient fellowship programme (funded outside of the scope of this Conference Grantapplication) is developed for patient advocates, giving them the opportunity to attend theconference without incurring high travel and accommodation expenses.

Expected impact and outcomes of the conference

The European Conference on Rare Diseases & Orphan Products (ECRD) of 2014 will takeplace in a different political context 2014 compared to the previous editions: the NationalPlans for rare diseases will be adopted in every EU country and will be in theirimplementation phase, the cross-border healthcare directive implementation will &so beon-going, the establishment of the overall system of European Reference Networks ofCentres of Expertise for Rare Diseases will be launched, while innovative processes andmechanisms are being defined or finalised to improve patients’ access to orphan

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medicinal products. Furthermore, the international dimension is growing, in terms of

research efforts and drug development.

In this innovative context, the impact and main expected outcomes are the following

ones:

- To gather 700 participants, from more than 45 countries, and allow them to benefit

from the presentations of 80 speakers;

- To get together all key stakeholders (patients and patients representatives, academics,

health care professionals, industry, policy makers and representatives of Learned

Societies concerned by health care delivery in rare diseases) with a view at

creating/maintaining a sense of community and enhancing dialogue;

- To bring all key stakeholders to the same level of knowledge about policy orientations,

concepts, priorities and emerging ideas as well as new challenges concerning rare

diseases at a European level, thus providing them with the existing information enabling

them to take well-informed decisions on issues affecting individual and collective health;

- To give relevant feedback to Member States and support/complement national efforts in

view of the implementation of National Plans on Rare Diseases, as well as in view of the

elaboration of future strategies impacting the rare disease field;

- To support key stakeholders in the field of rare diseases to identify priority challenges

for the future based on the updated information presented during the conference;

- To strengthen the capacities of each participant in their respective field of activity;

- To create an atmosphere conducive to networking and to promote information

exchange as grounds for future enhanced collaboration;

- To stimulate patient representatives and professionals to work more together through

complementary rare disease networks;

- To involve new Member States in all phases of information collection, exchange and

dissemination.

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Deliverables of the conference

Deliverable 01:

Title of deliverable European Conference on Rare Diseases & OrphanProducts (with simultaneous interpretation ofPlenary Session and selected additional sessionsin 2 to 5 languages)

Deliverable number in 01grant agreement

Nature Information tool (the conference itself)(eg. report, book, websiteetc.)

Delivery date to CHAFEA May 2014

Specific remarks on this Full information about the conference is available atdeliverable www. rare-diseases.eu

Can the deliverable be Yespublished at CHAFEA’sproject database?

Deliverable 02:

Title of deliverable Conference programme


Nature Programme of the conference(eg. report, book, websiteetc.)

Delivery date to CHAFEA January 2014

Specific remarks on this The full conference programme is available atdeliverable http ://www. rare-diseases.eu/programme/friday-9-

may-2014/


Deliverable 03:

Title of deliverable Conference materials: final programme, list ofattendees, communication papers, fact sheets,etc.


Nature Printed final programme, list of attendees,(eg. report, book, website communication papers, fact sheets, etc.etc.)

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Delivery date to CHAFEA May 2014

Specific remarks on thisdeliverable

Can the deliverable be Nopublished at CHAFEA’sproject database?

Deliverable 04:

Title of deliverable Special ECRD 2014 supplement of the onlineOrphanet Journal of Rare Diseases featuringbetween 40 and 60 abstracts of speakers’presentations


Nature Online supplement of between 40 and 60 speaker and

(eg. report, book, website poster abstractsetc.)

Delivery date to CHAFEA August 2014

Specific remarks on this The anticipated publication date for the supplement is

deliverable November 2014


Deliverable 05:

Title of deliverable Speaker presentations


Nature Speaker presentations available in electronic format

(eg. report, book, website via the conference websiteetc.)

Delivery date to CHAFEA June 2014

Specific remarks on this Speaker presentations can be viewed here:

deliverable http ://www. rare-diseases.eu/program me/speakers-presentations-ecrd -2014/


Deliverable 06:

Title of deliverable Executive conference summary


Nature Report

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(eg. report, book, websiteetc.)

Delivery date to CHAFEA August 2014

Specific remarks on this The anticipated publication date for the Executivedeliverable Summary of the ECRD 2014 Berlin is November 2014


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Steering Committee

Composition

Tamara Kohler

Mary Dunkle

Mirjam Mann

Cor Oosterwijk

Lene Jensen

DIA Europe

NORD (NationalOrganization forRare Disorders)

ACI-ISE (GermanNational Alliance forChronic RareDiseases)

VSOP (DutchNational Alliance forRare Diseases)

Rare DisordersDenmark

Switzerland

USA

Germany

The Netherlands

Denmark

18

Representative ofthe DIA. Responsiblefor ensuringoutreach to DIAmembers.Representative ofthe DIA. Responsiblefor speakermanagement andpromotion of theconference via theDIA’s networks andmembers.Representative ofNORD. Responsiblefor ensuringcoherence with theUS Conference onRare Diseases &Orphan Productsand proposingspeakers from theUS.Local SteeringCommitteerepresentative asDirector of theGerman NationalAlliance for ChronicRare Diseases.Responsible forensuring local andpolitical support.Responsible foroutreach to qualifiedspeakers in theNetherlands +

promotion of theconference anddissemination of thecall for posters.Responsible foroutreach to qualifiedspeakers inDenmark +

promotion of theconference anddissemination of the

Jytte Lyngvig DIA Europe Switzerland

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call for posters.Esther Neiditsch- ProRaris (Swiss Switzerland Responsible forPrigioni National Alliance for outreach to qualified

Rare Diseases) speakers inSwitzerland +

promotion of theconference anddissemination of thecall for posters.

Rainer Riedl Pro Rare Austria Austria Responsible foroutreach to qualifiedspeakers in Austria+ promotion of theconference anddissemination of thecall for posters.

Miroslaw Zielinski Polish National Poland Responsible forForum on the outreach to qualifiedTreatment of speakers in PolandOrphan Diseases + promotion of the(ORPHAN) conference and

dissemination of thecall for posters.

Sharon Ashton EURORDIS France Lead role in theplanning andorganisation of theconference andrelations withpartners.

François Houyez EURORDIS France Organiser of 3previousconferences. Centralrole in ensuring thequality of thecontent of the raredisease policysessions and inreaching its politicalobjectives.

Maria Mavris EURORDIS France As TherapeuticDevelopmentDirector atEURORDIS, Mariawill play a centralrole in ensuring thequality of thecontent of theorphan productssessions.

Anja Helm EURORDIS France Responsible forcommunication andoutreach to raredisease patientorganisationrepresentatives andmanagement of the

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patient advocatesfellowshipprogramme.

Patrice Régnier EURORDIS France Responsible for themanagement of theconference budgetand other financialconsiderationslinked to theconference.

Short description of work

Communication with the Steering Committee was carried out by email, no face-to-face

meetings were organised and no conference calls took place.

The main work and activities of the Steering Committee were to outreach to qualified

speakers in their own countries and to promote the conference and disseminate the call

for posters as broadly as possible to their members and networks. Moreover, the German

National Alliance for Rare Diseases was responsible for ensuring local on-site and political

support. The US National Organization for Rare Disorders (NORD) was responsible for

ensuring coherence with the US Conference on Rare Diseases & Orphan Products and

proposing speakers from the US.

It was the responsibility of the EURORDIS staff serving on the Steering Committee to

take the lead role in keeping the other Steering Committee members and official

conference partners updated on the developments of the conference and to manage the

conference budget and other financial considerations linked to the conference. They were

also responsible for ensuring the quality of the content of the orphan products sessions

and the rare disease policy sessions, especially in view of the conference reaching its

political objectives.

An important element of the EURORDIS staff’s tasks within the Steering Committee was

to communicate and outreach to rare disease patient organisations in Europe and beyond

and to manage the patient advocates’ fellowship programme.

Problems and changes occurred

During the development and organisational phases of the ECRD 2014 Berlin, no problems

occurred in relation to the work of this committee and no changes occurred to this

committee compared to the grant agreement.

20

November 2014


Scientific Committee

Composition

The following three Scientific Committee Co-Chairs were appointed based on theirindividual domains of expertise and to ensure the quality of the programme’s content:

-

Institution Country

Co-Chair of theScientific Committee(SC) andrepresentative ofEUCERD. Providescontinuity of theprogramme since2005. Responsiblefor ensuring qualityof programmecontent.

Lesley Greene COMP, CLIMB,EURORDIS

UK Co-Chair of theScientific Committee(SC). SC member ofECRD 2012. COMPrepresentative.Proposes P0speakers andensures the voice ofpatients is heard.

Wills Hughes-Wilson Sobi Sweden Co-Chair of theScientific Committee(SC). SC member ofECRD 2012.Industryrepresentative.Responsible forproposing industryspeakers for theorphan productssessions.

The Scientific Committee was composed of the following 14 members who were selected

based on their individual domain of expertise and their ability to develop sessions withpertinent speakers who deliver up-to-the-minute presentations and relevant healthinformation.

LN.arne

Ségolène Aymé Orpha net / IRDIRC France

21

November 2014


John Dart Debra International, UK PatientEURORDIS representative.

Responsible forproposing qualityspeakers.

Loic Guillevin EFIM France EFIM representative.Responsible forproposing qualityspeakers.

Véronique Héon-Klin German Federal Germany GovernmentMinistry of Health representative and

EUCERD Member.Responsible forproposing qualityspeakers.

Thierry Laugel KLS France Venture capitalcompanyrepresentative.Responsible forproposing qualifiedspeakers to give theinvestor perspective.

Yann Le Cam EURORDIS France/Belgique Representative ofEURORDIS andmember of EUCERD.Responsible forproposing qualityspeakers.

Birka Lehmann German Federal Germany Representative of a

Institute for Drugs & regulatory agency

Medical Devices / and representing the

PDCO local community.Responsible forproposing qualityspeakers.

Kevin Loth Celgene UK Industryrepresentative.Responsible forproposing industryspeakers.

Milan Macek ESHG Czech Republic Representative forESHG. Responsiblefor proposing qualityspeakers.

22

November 2014


Christoph German National Germany Local SCNachtigaeller Alliance for Chronic representative and

Rare Diseases patient(ACHSE) representative.


Gabor Pogany Rare Diseases Hungary PatientHungary representative.

Responsible forproposing PDspeakers fromEastern Europeancountries.

Peter Saltonstall National USA Representative ofOrganization for NORD. ResponsibleRare Disorders for proposing(NORD) speakers from the

US.

Bruno Sepodes COMP / University of Portugal COMPLisbon representative.


Till Voigtlander Medical University of Austria EUCERDVienna representative and

scientist.Responsible forproposing qualityspeakers.

Durhane Wong- Canadian Canada Representative ofRieger Organization for CORD. Responsible

Rare Disorders for proposing(CORD) speakers from

Canada.

Short description of work

The Scientific Committee is responsible for the development of the scientific content ofthe meeting. The Scientific Committee reflects the strategic partnerships of ECRD.

The role of the Scientific Committee is to:

• Attend Scientific Committee meetings

• Define the main themes of ECRD 2014 Berlin

23

November 2014


• Define the session topics

• Define the poster themes

• Appoint two Theme Leaders per conference theme to develop the sessions

• Assist Theme Leaders to develop the sessions where appropriate

• Approve the sessions once developed

• Appoint a poster committee to review posters submitted

ECRD is structured around a number of interdisciplinary themes. The content of ECRD is

derived from both suggestions for sessions and session chairs from Scientific Committee

members, Theme Leaders and posters submitted.

Problems and changes occurred

The Scientific Committee met face-to-face on two occasions in April 2013 and September

2013. It goes without saying that there are always several members of the Scientific

Committee who are unable to attend the Scientific Committee meetings due to conflicting

schedules. This problem is overcome by advance preparation and a systematic and

regular follow-up by email after the meetings. Conference calls were organised with

selected Scientific Committee members, Theme Leaders and Session Chairs to further

develop the sessions in a timely manner. No other problems occurred in relation to the

work of this committee and no changes occurred to this committee compared to the

grant agreement.

24

November 2O1’


Conference implementation

Final Conference programme

The event took place in Berlin over 2 days.

The Conference started with a half-day Opening & Plenary session that officially launchedthe Conference. The Opening & Plenary session was simultaneously interpreted fromEnglish into 5 languages: German, French, Spanish, Polish and Russian. Speakers andround table participants in this session included patients’ representatives, healthcareprofessionals and academics, policy decision-makers and officials from the EC. This partof the ECRD focussed on rare diseases research collaborations in Europe and EU PolicyActions on Rare Diseases. The topic of the round table discussion was the mainchallenges that remain in the areas of organisation of healthcare, research and thedevelopment and availability of orphan medicinal products in Europe.

The remaining 1.5 days of the Conference was dedicated to parallel sessions developingthe specific themes listed below: 6 simultaneous tracks of 6 sessions each. A total of 36sessions were proposed. Each session lasted 90 minutes. Two of the 6 parallel sessions -

so a total of 12 sessions - were simultaneously interpreted from English into German andRussian.

Theme 1: Improving Healthcare Services

Theme 2: Knowledge Generation and Dissemination

Theme 3: Research from Discovery to Patients

Theme 4: State of the Art and Innovative Practices in Orphan Products

Theme 5: Emerging Concepts and Future Policies for Rare Disease Therapies


The conference programme and addendum can be found in Annexes 20134309D02-000THGBPS and 20134309D02-O1OTHGBPS respectively.

Theme Leaders were appointed from among the members of the Scientific Committeeand beyond to develop the sessions within each theme. To ensure continuousmanagement of the project, regular conference calls were set up and updates sent to allTheme Leaders and Scientific Committee members. The appointed Theme Leaders arelisted hereafter:

25

Kate Bushby, Institute ofGenetic Medicine, UK

Véronique Héon-Klin,German Federal Ministryof Health, Germany


Theme Leaders

November 2014


Theme 4: State of the Art and Innovative Practices inOrphan Products

Ségolène Aymé, Orphanet

/ IRDiRC, France

Lesley Greene, COMP /CLIMB / EURORDIS,France

Kay Parkinson, AlstromSyndrome, UK

Serge Braun, AFM, France

Theme 5: Emerging Concepts and Future Policies for Jordi Llinares Garcia, EMA,

Rare Disease TherapiesUK

Paolo Siviero, AIFA, Italy

Theme 6: Beyond Medical CareJohn Dart, DebraInternational / EURORDIS,UK

Gabor Pogany, RareDiseases Hungary,Hungary



Bruno Sepodes, COMP /University of Lisbon,Portugal

Emmanuelle LecomteBrisset, Shire, Switzerland

A full spectrum of rare disease policy topics were covered during the Conference and

sessions entirely dedicated to orphan products were developed and integrated into the

Conference.

The sessions included:


0101: Centres of Expertise — Part I (models and practical examples)

0102: Centres of Expertise — Part II (designation & evaluation)

0103: European Reference Networks (ERN5)

0104: Addressing the Challenges of Healthcare Pathways

0105: Advances in Diagnostic Possibilities for Undiagnosed Patients

0106: Improving the Quality of and Access to Diagnostic Services


0201: The role, risks and relevance of registries in shaping therapy development to 2020

26

November 2014


0202: A collaborative model to progress knowledge and research

0203: Making the invisible visible: The coding of Rare Diseases in Health InformationSystems

0204: Delivering Help and Support in a virtual world: what will work best?

0205: Knowledge at the point of care: getting the facts just in time or just in case

0206: Hype, help or harm? The impact of media promotion of rare diseases


0301: Shaping Rare Disease Research Policy

0302: Addressing the Gaps in Research at International Level to Identify Opportunities

0303: Incentives to create a favourable eco-system

0304: Breakthroughs in Science

0305: Pre-competitive tools and resources / public-private partnership in the area of rarediseases (including Innovative Medicines Initiative)

0306: Whose data is it?: Stimulating Research and Removing Barriers

Theme 4: State of the Art and Innovative Practices in Orphan Products

0401: Current landscape of Policy Development on Orphan Products & Rare DiseaseTherapies

0402: Facts on current patient access challenges to orphan products

0403: EMA/ Health Technologies Assessment (HTA) interfacing on rare disease therapies

0404: Shortages in Authorised Medicines for Rare Diseases

0405: Understanding of Orphan Therapies Off-Label Uses and Their New Challenges

0406: Empowering Patient Advocates in Drug Development

Theme 5: Emerging Concepts and Future Policies for Rare Disease Therapies

0501: Early Dialogue and Horizon Scanning of Product development to address unmetmedical needs

0502: How to shape a better framework for orphan drug development: EMA/FDAcollaboration

0503: Progressive Patient Access Schemes & Patient Involvement in Benefit-RiskAssessment

0504: Mechanism of Coordinated Access (MOCA) and Transparent Value Framework,Market Entry Agreements

0505: Emerging Ideas for Sustainable Access to Orphan Medicinal Products

27

November 2014


0506: Rare Disease treatments beyond medicinal products


0601: Identifying specific social challenges of rare diseases

0602: Different approaches to the social challenges of rare diseases: Social Policy

0603: Concrete Solutions to Social Challenges: Essential tools for the integration of rare

diseases into Social Services

0604: Can people living with a rare disease be independent? Inspiring personal stories

0605: Can people living with a rare disease be independent? Inspiring solutions by

providers

0606: How Centres of Expertise should/could interface with social services

There were several changes to the original planning that are outlined hereafter.

EURORDIS originally intended to have the participation of the EU presidency up-coming

trialogue — namely representatives from Italy, Latvia and Luxembourg — during the

Opening and Plenary Sessions of the Conference. Unfortunately, due to overload at

Permanent representation’s level, the input from the trialogue could not be secured,

despite “save-the-dates”, invitations and reminders duly communicated in time.

During the development of the programme, it was suggested that more catchy and/or

provocative titles be chosen for some of the sessions whose working titles were

somewhat sterile. This did not affect the content of those sessions but made the titles

more descriptive and attractive. Specifically, this was the case for all of the Theme 2

sessions as well as session 0306.

Session 0506 was originally planned to be a session on the re-purposing of drugs,

however, during the development phase it transpired that not enough information was

available on this topic to be presented and so it was decided by the Scientific Committee

to re-orient the topic of this session to cover rare disease treatments beyond medicinal

products. This session was composed of a roundtable with 5 participants including patient

representatives, industry and academia. The roundtable format was successful and

spurred much interest and participation from the audience.

The original planning included two Conference sessions that were to be dedicated to pre

selected posters for oral communication. In the end, the Scientific Committee opted to

include selected posters for oral communication within other existing sessions and not to

dedicate two separate sessions only for oral communications of posters. This was based

on the topics of the posters and where they would be best placed on the programme.

The preparation of the Conference and the identification of selected topics start 13

months ahead of the Conference. Therefore, during the course of the programme

development, some issues become less “burning”, while some others do raise renewed or

emerging interest thus shifting the focus and impacting the programme’s sessions. As a

result, several topics were anticipated in the application file but were not included as

“specific session titles” in the final programme, in spite of being consistently talked about

during other sessions during the Conference, for instance, the issues around blo-banks

were discussed during session 0304 Breakthroughs in Science and session 0306 Whose

Data is it? Stimulating Research and Removing Barriers. It is important for the organisers

and the Programme Committee members to ensure flexibility in order to adjust to the

rapidly evolving environment in which the Conference is organised.

28

November 2014

Final Report — Chafea Conference Grant Nr: 20134309.

Organization and planning

The Scientific Committee members were selected based on their individual domain ofexpertise and ability to develop sessions with pertinent speakers who deliver up-to-the-minute presentations and information. Members of the Scientific Committee includedrepresentatives from EURORDIS and its partner groups: EUCERD, EMA/COMP, EBE andEuropaBio, Orphanet, DIA, NORD (USA), CORD (Canada), ACHSE (Germany), EuropeanSociety of Human Genetics (ESHG) and the European Federation of Internal Medicine(E Fl M).

To ensure continuous management of the project, regular Scientific Committee meetingsand/or conference calls were set up and regular reports were sent to the SteeringCommittee, Scientific Committee, Theme Leaders, partner groups and EURORDIS staff.This working procedure facilitated project follow-up, decision-making, organisation of theConference, budgeting, promotion and dissemination of the Call for Posters.

A full spectrum of rare disease policy topics was covered: they were selected based onnew information to be shared, relevance of the topic and new or emerging issues.

A special committee was appointed to evaluate poster submissions based on a predefined set of quality criteria. The committee was comprised of 6 members: 2 patientrepresentatives; 2 academics and 2 industry representatives as shown below.

Cor Oosterwijk

Kate Bushby

COMP / CLIMB /EURORDISVSOP (DutchNational Alliance forRare Diseases)Institute of GeneticMedicine

The Netherlands

UK

1L_Representing_]

PatientrepresentativePatientrepresentative

Academic

Ségolène AyméKevin Loth

EmmanuelleLecomte-Brisset

Orpha net / IRD1RCCe I gene

Shire

FranceUK

Switzerland

AcademicIndustryrepresentativeIndustryrepresentative

The organisers received 287 poster submissions in total. The objective was to display 100on-site. However, due to the high quality of the poster submissions, the PosterCommittee decided to accept 200 posters and to invite each person to present theirposter on only one day of the conference. 184 posters were presented at the Conference.A further 23 were presented electronically on screens at the Conference. Two dedicatedposter sessions were integrated into the programme on each day. The full list of postersand authors can be found on Pages 10 to 15 of the conference programme in Annex20134309D02-000THGBPS.

Participants

The main highlights from a participation stand point for the ECRD 2014 Berlin arepresented below.

• Highest participation since the first ECRD 2001 with 768 participants on-site

• Participant representation from 43 countries including 26 from EU/EEA

29

Lesley Greene

i tn çountry ‘

November 2014


• 15 of the 43 countries represented were Eastern European States

• A comprehensive conference programme: 138 speakers/chairs, Opening & Plenary

session, 36 parallel sessions, 207 posters

• A convivial event with ample time allocated to networking

Pa rticipaton

A total of 768 participants attended ECRD 2014 Berlin (a 18.4% increase from 2012),

including 138 speakers and session chairs. 40 full patient fellowships were awarded.

The evolution of the total number of participants to the European Conference on Rare

Diseases since its beginning in 2001 is as follows:

768

The participants at ECRD 2014 represented 43 countries, including 26 from the EU/EEA.

The total number of participants attending from EU countries was 610 (compared to 521

in 2012), corresponding to 8O% of the overall attendees. Participants attending from EEA

countries corresponded to 82% of the overall number of attendees (629).

Representatives from 15 Eastern European states (Bosnia and Herzegovina, Bulgaria,

Croatia, Czech Republic, Georgia, Hungary, Latvia, Republic of Macedonia, Poland,

Romania, Russian Federation, Serbia, Slovakia, Slovenia, Ukraine) were present at the

Conference. In total, participants from Eastern Europe represented ll.2% of the

attendance.

Non-European participation from Australia, Brazil, Canada, India, Israel, Japan, South

Africa, Taiwan and USA represented 7% of the total attendance.

By country of origin, Germany had the largest delegation of 129 people, representing

16.8% of participants. Mobilisation of German patient organisations via the German

National Alliance for Chronic Rare Diseases (ACHSE), as well as interpretation of sessions

30

November 2014


in German and the early-bird registration fee that was made available throughout theregistration process were all key factors for this success.

The other countries with an important presence at the Conference included the UK (93participants), Italy (71 participants), France (48 participants), Belgium (48 participants),the Netherlands (39 participants) and Switzerland (33 participants). The number of Polishparticipants also saw a record high of 25 at the Conference. This can be explained by theclose proximity and ease of access to Germany from Poland.

Interpretation of the Opening and Plenary sessions from English into 5 languages(French, German, Polish, German and Russian) was undoubtedly an important factor forregistration: overall, delegates originating from countries where these languagesdominate represented 64% of all delegates.

The country of origin and the number and percentage of attendees at ECRD 2014 bycountry are shown below:

Country N° of delegates Country N° of delegates

Australia 2 Latvia 3

Austria 14 Luxembourg 9

. Republic ofBelgium 48 - 1

Macedonia

Bosnia and. 1 Netherlands 39

Herzegovina

Brazil 2 Norway 18

Bulgaria 4 Poland 25

Canada 9 Portugal 3

Croatia 2 Romania 4

Czech5

Russian 16Republic Federation

Denmark 19 Serbia 7

Finland 17 Slovakia 2

France 48 Slovenia 2

Georgia 2 South Africa 1

Germany 129 Spain 25

Greece 4 Sweden 21

Hungary 10 Switzerland 33

Iceland 1 Taiwan 1

India 1 Turkey 2

31

November 2014


Ireland 13 Ukraine 2

UnitedIsrael 1 93

Kingdom

United 33Italy 71 States

Non-Japan 3 22

specified

The 138 Conference speakers and session chairs represented a total of 22 countries. The

majority of the official Conference partners were represented among the speakers and

session chairs, including the EUCERD, EMA/COMP, EBE and EuropaBio, Orphanet, the

Drug Information Association (DIA), the European Society of Human Genetics (ESHG),

the Canadian Organization for Rare Disorders (CORD) and the German National Alliance

for Chronic Rare Diseases (ACHSE). In addition, 2 presentations were given during the

Opening & Plenary Session by representatives from the European Commission on Rare

Disease Research collaborations in Europe and beyond and the EU Action on Rare

Diseases.

In terms of delegates’ categories, the composition of ECRD 2014 Berlin differed slightly

compared to previous events: the introduction of a new category, medical students and

post-graduate trainees, made up 3% of total figures. There were slightly fewer industry

representatives (15% versus 19% in 2012). The proportion of health care professionals

and policy makers was more or less stable (36%).

A comparison of the attendee categories from ECRD 2007 through to ECRD 2014 are

illustrated below:

32

November 2014


60% Categories of delegates: Comparison between ECRDs 2010,2012 and 2014

50%

40% • ECRD 2010

ECRD 2012

30%ECRD 2014

20%

3%

0% 0%0%

Patient Organisations HCP and policy makers Medical students, post-grad trainees (new to

2014)

In terms of attracting participants, EURORDIS and its official partners and SteeringCommittee member organisations each broadly disseminated the Call for Posters(Annexes 201343090THGBPS22 through 201343090THGBPS26; 2O1343O9NWLFRPS13and 20134309NWLGBP514; 2O134309NWLDEPS1 1 and 20134309NWLESPS12;20134309NWL1TPS19 through 20134309NWL1TPS21; 201343090THGBPS27 through201343090THGBPS34 and 2O1343O9LFTGBPS2), the preliminary and advancedprogramme (Annex 201343090THGBPS35) and final programme to their extensivenetworks and members. Regular electronic mailings, targeted specifically to eachcategory of participants, was sent to the EURORDIS database list containing over 7000contacts and by our partners, in particular DIA. Flyers and leaftlets about the Conferencewere also displayed at other events relating to rare diseases in the run-up to the event(Annexes 2O1343O9LFTGBPS3 through 2O1343O9LFTGBPS6).

Our target in terms of participation was to gather 700 participants: patientrepresentatives, health professionals, health authorities, European Commission,academia/scientists, pharmaceutical and biotech industry representatives. This objectivewas surpassed with 768 participants representing all of the above mentioned stakeholdergroups.

Sponsorship

Both public and private sponsors were approached to supplement income fromconference registration fees. This allowed patients, patients1 representatives, healthprofessionals and public sector employees to attend at rates affordable to them.

The conference was financed with contributions from the following entities:

33

10%

Pharma industry

November 2014


European Commission conference grant — Covering all invoices directly linked to the

event and via an Operating Grant from the European Commission’s DG SANCO which

covers staff costs directly linked to (a) the planning & preparation of ECRDs (b) scientific

committees organisation and attendance (c) website updates in up to 5 languages (d)

announcements (e) executive report.

On-site exhibition —11 exhibition stands or “table tops” were sold to pharmaceutical and

other companies serving rare disease patients, such as those producing special food and

medical devices, as well as companies offering consulting, technology and other services

to the health sector.

Pharmaceutical companies made corporate sponsorship donations to support the patient

fellowship programme and the EURORDIS Membership Meeting that takes place the day

prior to the ECRD.

Marketing and dissemination

Based on evaluations and recommendations from previous conferences, the majority of

the marketing and communication efforts around the Conference were carried out

electronically to ensure a broader coverage, quicker turnaround time & updates, as well

as ecological considerations.

A Save the Date email was sent to EU officials and the EMA and COMP in February and

May 2013. Save the Date flyers were made available by our partner - DIA - at their

annual EuroMeeting in March 2013 that was attended by over 3000 participants (Annexes

(Annexes 20134309LFTGBP53 through 20134309LFTGBPS6). A presentation about ECRD

2014 was made at the EUCERD Plenary Session in June 2013 in Luxembourg.

Information leaflets were printed and distributed at other conferences throughout Europe

and in the US related to rare diseases and/or orphan products between April 2013 and

the date of the conference (Annexes 2O1343O9LFTGBPS3 through 2O1343O9LFTGBPS6).

This was done with the help of our partners, in particular the DIA and Orphanet. The

logos of all co-funders were visible on these leaflets and on the Save the Date

announcement.

A special lead story was featured about ECRD 2014 in the 28 November 2013 edition of

the EURORDIS e-news (Annexes 2O1343O9NWLGBPS15 and 20134309NWLG8PS16)

translated into 7 languages, to our database comprising over 7000 contacts representing

all target participants and attendees of past conferences and National Conferences held

in the context of the EUROPLAN I and II EU Funded projects.

The existing dedicated conference website was upgraded and included full details about

the venue, programme, abstract and poster submissions, patient fellowship programme

and other useful information (Annex 201343090THGBPS36). The website address was

disseminated to the full EURORDIS database and via our partner groups. The logos of all

co-funders were visible on the website.

The Call for Posters for ECRD 2014 Berlin (Annexes 201343090THGBPS22 through

20134309OTHGBPS26; 2O1343O9NWLFRPS13 and 2O1343O9NWLGBPS14;

2O1343O9NWLDEPS11 and 2O1343O9NWLESPS12; 20134309NWL1TPS19 through

20134309NWL1TPS21; 201343090THGBPS27 through 20134309OTHGBPS34 and

2O1343O9LFTGBPS2), the preliminary and advanced programme (Annex

201343090THGBPS35) was broadly disseminated to the full EURORDIS database, via our

partner groups and featured on the dedicated conference website and those of our event

partners. The logos of all co-funders were visible on the Call for Posters.

34

November 2014


The preliminary programme of the conference and the advanced programme (Annex201343090THGBPS35) were made available on the dedicated conference website andpartner websites. A link to the relevant pages of the website was sent to all targetparticipants.

Regular electronic mailings, targeted specifically to each category of participants, weresent to the EURORDIS database list and disseminated by our partners and in particularthe DIA (Annex 201343090THGBPS37).

All participants of the Conference received in their conference bags copies of the finalprogramme (Annexes 20134309D02-000THGBPS and 20134309D02-O1OTHGBPS), list ofparticipants (Annex 20134309D03-000THGBIS), EURORDIS brochures (Annex2O1343O9LFTGBPS7), Rare Disease Day flyer (Annex 20134309LFTGBPS8), RareConnectbrochures (Annex 20134309LFTGBPS9), EUPATI brochures (Annex2O1343O9LFTGBPS1O), registries book and evaluation questionnaire (Annex201343090THGBPS38). Copies of other documents were also be made available ontables in the conference venue for all participants at the conference including brochuresabout other relevant EU Funded projects and EURORDIS Fact Sheets (Annexes20134309D03-O1OTHGBPS, 20134309D03-O2OTHGBPS, 20134309D03-03OTHGBPS and20134309D03-04OTHGBPS).

A press release (see Annex 201343090THG8P539) was disseminated on 9 May 2014, thefirst day of the conference, to the full EURORDIS database of more than 7000 contactsincluding health media throughout the world.

Financial management

The costs were higher than expected because more people attended the conference thanexpected. There were no particular issues in the financial management of the conference.

35

November 2014


Post-conference follow-up

Dissemination activities after the conference

The speakers’ presentations were made available online via the official Conference

website within 2 weeks after the conference. An announcement of their availability was

made in an issue of the EURORDIS e-news (Annexes 20134309NWLG8PS17 and

20134309NWLGBPS18).

A special supplement of the online Orphanet Journal of Rare Diseases has been accepted

for publication and will feature a selection of 49 abstracts submitted by speakers and

poster presenters to the Conference organisers. This will be promoted by Orphanet and

announced by EURORDIS in an issue of its e-news that is sent to the EURORDIS contact

database of more than 7000 contacts. It will also be announced in Orphanews and by our

other event partners.

The Executive Conference Summary, including key recommendations, will be published

on the Conference website and partners’ websites, in particular the DIA website, as well

as through the EURORDIS e-news & Orphanews. Printed copies will be sent to selected

persons at the European Commission and the EMA, the EURORDIS Board, ECRD 2014

Scientific Committee and Steering Committee members.

All of the above mentioned communications will include the logos of all co-funders and

conference partners.

The CHAFEA can further communicate on this conference from the end of November

2014 by disseminating as broadly as possible the website address (www.rare

diseases.eu) where the speakers’ presentations, link to the online Orphanet Journal of

Rare Diseases and the electronic version of the Executive Conference Summary will all be

accessible.

Conference website

Conference website address: www. rare-diseases.eu

Speaker presentations are available on the conference website: http:f/www.rare

diseases.eu/prog ramme/speakers-ijresentations-ecrd-2014/

The conference website will be available until September 2015 when the updated

conference website for ECRD 2016 Edinburgh will be launched.

Publication, Abstracts, Articles

The online Orphanet Journal of Rare Diseases will publish in November 2014 a special

supplement featuring 49 abstracts submitted by speakers and poster presenters to the

conference organisers. The link to this online special supplement will not become

available before the date of publish.

The availability of this special supplement will be promoted by EURORDIS to all

participants of ECRD 2014 Berlin and announced by EURORDIS in an issue of its e-news

that is sent to the EURORDIS contact database of more than 7000 contacts. It will also

be promoted by Orphanet and selected other event partners.

36

November 2O1’


Evaluation of the conference

A comprehensive evaluation form (Annex 201343090THGBPS38) was distributed to allconference participants in the conference bags at the conference. It was also madeavailable via the mobile application that was developed for the conference and that wasdownloaded by 338 participants (General Screenshot Annex 201343090THGBPS40).

The form was also converted to an online survey(httrs : //www.surveymonkey. corn/sf ECRDBerIin) (Screenshot Annex201343090THGBPS41) and emailed to all participants after the conference. Theevaluation questions were linked to the planning and organisation, the quality of theprogramme, as well as the Conference venue and the selection of Berlin. Our aim was toreceive a minimum of 200 evaluation forms from participants.

In addition to the full evaluation form, a short evaluation form (Annex201343090THGBPS42) was made available in printed format during each session withquestions linked to the topic, session chair and speakers. These short evaluation formswere also made available via the mobile application.

A total of 184 evaluation forms (124 full and 60 short) were submitted both on-site andfollowing the online survey that was sent to participants after the conference.

The evaluation forms have been reviewed and a report produced (see “Participationfeedback” section below and Annex 2O1343O9EVRGBPS1). This report has beendisseminated to the relevant staff, partners, Scientific and Steering Committees. A set ofrecommendations have been drawn up for future conferences.

Participant feedback

A total of 29 countries were represented among the 124 completed evaluation forms.This equates to a l6.2% response rate. This is a slightly lower response rate than thelast conference which received a 17.8% response rate. Gender-wise, respondents were28% males and 69% females (some participants did not specify). The category ofrespondents can be found in Figure 1 below.

• Patient Rep• Scientist/Clinical researcher

Doctor/Healthcare• Social Worker• Health Industry

37

November 2014


Figure 1: Category of respondents

As Figure 1 illustrates, the majority of the evaluation forms were received from patient

representatives. The lowest response rate came from health policy makers and social

workers. We believe that the reason for the poorer than anticipated response rate is due

to two reasons: a) the fact that industry representatives, policy makers and health care

professionals attend many conferences and are highly solicited, and b) that the

evaluation form is too long and thus deters some respondents from completing and

submitting the form. One of the improvements we will make for ECRD 2016 is to split the

evaluation forms into a series of shorter forms focussing on specific aspects of the

conference such as the quality of the programme, the conference website and

registration process and the conference venue and host city. Completing a

comprehensive evaluation form may be considered too time consuming and not

necessarily a priority for the above categories of participants.

Hereafter, you will find the results of the analysis of the evaluation forms.

The overall assessment of the conference by participants was very positive. When asked

how they rated the conference, 51% stated ‘good’ and 44% ‘excellent’. As to the

conference meeting personal expectations, figure 2 below confirms this was largely

positive with 25% of respondents stating that the Conference had exceeded their

expectations.

80%

70%

60%

50%

40%

30%

20%

10%

0% —r---i—

Equaled Failed

Figure 2: To what extent has the conference met your expectations?

General aspects of the conference ranking highest included ‘opportunities for networking’

(94% rating ‘good’ or ‘excellent’), and ‘quality of the speakers’ (92% rating ‘good’ or

‘excellent’). Only l.6% of the participants gave a ‘poor’ rating on the specific aspects of

the conference. The poor ratings were mainly associated with the poor internet

availability.

Conference website:— The majority of respondents considered the website, across all the

criteria (including design, accessibility, content, quality of information, usefulness and

registration) as either ‘good’ or ‘excellent’, with 67% of responses rating the quality of

the website’s information as excellent. Figure 4 below shows responses to each of the

components:

38

Exceeded

November 2O1


80%

70%• Excellent

• Good

60% • AveragePoor

50%

40%

30%

20%

10%

0%

Figure 4: Comments on website

Comments on sessions:- The conference included a large number of sessions. A shortquestionnaire was handed out to participants at the end of each session (Annex201343090THGBPS42). Specific observations by respondents about the quality ofsessions included that the speakers were very interesting but for certain sessions, thetime limits were not well respected and the chairs did not really play their role ofmoderator.

The sessions that enjoyed the highest attendance were Session 0101 Centres ofExpertise Part 1 (Models & Practical Examples), Session 0201 The Role, Risks andRelevance of registries in shaping therapy development to 2020, Session 0304Breakthroughs in Science, Session 0403 EMA — HTA interfacing on rare disease therapies,Session 0503 Progression Patient Access schemes and patient involvement in benefit-riskassessment and Session 0604 Can people living with a rare disease be independent?Inspiring personal stories.

The lowest attended sessions were those at the end of the programme due to someparticipants departing just before the final sessions.

The feedback from the Opening & Plenary Session was mixed. While the quality of themoderator, speakers and round table panellists were high, some felt that these sessionslacked unity and a sense of motivation and clear objectives for the programme ahead.

It has been recommended at the next conference to reconvene a Plenary Session at theend of the conference to communicate the main outcomes and take home messages.

Narrative comments:- A number of comments, gathered from the evaluation forms,provide insights into the perception of the conference. A selection is provided here:

• “The speakers were all excellent, very high knowledge, very engaging and a lively

discussion followed the presentations”• “It was an enriching experience...useful, interesting and the staff of EURORDIS

was welcoming, helpful and kind”

39

Conference Accessibility Content Quality of Usefulness Easy towebsite information registerdesign

November 2014


• “Really enjoyed the quality of the speakers”

• “It was a great opportunity to meet other patient organisations and specialists”

• “A million thanks to the EURORDIS and DIA team for all the hard work in

organising this one”

• “Such a nice conference, from patients to European Committee all European

countries and beyond, please keep going”

• “Sometimes the themes broached could have been presented in a more concise

way so as to leave more time for questions from the audience”

• “The mobile app was a nice idea, but the wifi didn’t work”

• “I would love to see even more patient group workshops and best practice models

for patient groups, so that we all learn how to best start”

Concluding Comments:- As can be seen from the material above, the conference was for

many a positive and developmental experience, providing opportunities for a range of

stakeholders in the rare disease community to participate at a number of levels.

Recommendations for future conferences include briefing session chairs more thoroughly

on time-keeping of their sessions to ensure that speakers do not exceed their allocated

time therefore allowing enough time for discussion. The venue needs to provide low

buffet tables at lunch, lunch trays and adequate seating for people with reduced mobility

during the lunches and coffee breaks.

Process evaluation

Process indicators:

1. Appointment of scientific committee members (3 co-chairs and 14

members) by July 2013. The Scientific Committee members and co-chairs were

all appointed by mid-April 2013. The first face-to-face Scientific Committee

meeting was held on 24 April in Paris and was attended by the 3 co-chairs and 7

members of the Scientific Committee (Sign-in sheet Annex

201343090THGBPS43). A second face-to-face Scientific Committee meeting was

held on 16 September 2013 during which 2 of the 3 co-chairs were present and 7

members of the Scientific Committee (Sign-in sheet Annex

201343090THGBPS44). Representation was provided on the Scientific Committee

from all of the event partners.

2. Launch of website in 6 languages by October 2013. The English version of

the upgraded conference website was launched in mid-September 2013. The

translation of the text into the 5 additional languages took longer than expected

as did the integration of these languages by the website designer. The additional

5 languages of the website therefore became available during the second half of

November. The upgraded website included full details about the venue,

programme, abstract and poster submissions, patient fellowship programme and

other useful information.

3. Call for posters announcement to be disseminated by September 2013.

The Call for Posters was disseminated as the lead story in the 18 September 2013

eNews sent to the EURORDIS contact database of more than 7000 contacts

(Annexes 2O1343O9NWLGBPS14 & 201343090THGBPS27). It was also

disseminated by our conference partners with several reminders sent thereafter

(Annexes 201343090THGBPS23 through 201343090THGBP526 and

201343090THGBPS34).

40

November 2014


4. Number of registrations by category of participant to be measured on a

monthly basis from December 2013 to May 2014. The number of paid

registrations (excluding speakers and session chairs) by category of participant

was measured on a monthly basis from January 2014. Please see figures below.

As of 27 January 2014:

Patients organisations 23Academics/Healthcare 17professionals/regulators/payers/policymakersPharmaceutical industry 11

As of 24 February 2014:

nt umber of re’ onsPatients organisations 105Academics/Healthcare 103professionals/regulators/payers/policymakersPharmaceutical industry 31As of 28 March 2014:

-— uiT,er a ctrons

Patients organisations 193Academics/Healthcare 157professionals/regulators/payers/policymakersPharmaceutical industry 56

As of 5 May 2014:

Lcatr icIpdnL NunferPatients organisations 237Academics/Healthcare 178professionals/regulators/payers/policymakersPharmaceutical industry 94

In view of the low registration figures for pharmaceutical industry representatives as of28 March 2014, numerous actions were carried out throughout April in order to outreachmore to this category of participant and stimulate registrations. The actions includedspecific emailings to members of the EURORDIS Round Table of Companies comprised ofover 40 pharmaceutical companies; the EURORDIS database of industry contactscomprised of over 350 individual contacts; German pharmaceutical syndicates viamembers of the ECRD 2014 Programme Committee who represent industry; paidadvertising on the PMLive Orphan Drugs and Rare Diseases page; Twitter chat held on 23April; lead story in the EURORDIS eNews on 9 April sent to more than 7000 contactsincluding industry; dissemination via DIA, EuropaBio and EFPIA newsletters / memberemailings; social media postings on EURORDIS facebook and twitter accounts; and thedistribution of flyers at relevant events attended by industry throughout April 2014.

41

November 2014


These efforts resulted in an increase in industry registrations from 56 to 94 (67.85%

increase) in just over 5 weeks.

Output evaluation

The Conference provided the platform for the synthesis and dissemination of main

achievements in the framework of the implementation of the Commission Communication

and Council Recommendation on Rare Diseases. These included the EUCERD

Recommendations on Quality criteria for Centres of Expertise in Member States, on

European Reference Networks, on the Clinical Added Value of Orphan Medicinal Products—

Information Flow (CAVOMP-IF), on patient registration and data collection, as well as the

outputs of the EUCERD Joint Action on RD, the policy orientations developed within the

International RD Research Consortium (IRDiRC), and the outputs of the process on

Corporate Responsibility in the field of Pharmaceuticals in terms of patients’ access to

orphan medicinal products (M0CA).

The Conference gathered 768 participants representing 43 countries including 26 EU/EEA

Member States. Participants included representatives from all target audience groups:

patient representatives, healthcare professionals, national health authorities, payers and

HTA bodies, EU decision-makers, academia/scientists, pharmaceutical and biotech

industry representatives. This result exceeded our projected attendance indicator of 700

participants on-site and is a measure of the Conference’s extended outreach and impact,

and the pertinence of the conference programme topics.

The conference programme was disseminated to health authorities, patient organisations,

health professionals and academia, pharmaceutical and biotech industry representatives

by the conference organiser via email and the conference website and via event partners.

In addition, each attendee at the conference received a copy of the conference

programme (Annexes 20134309D02-000THGBPS and 20134309D02-O1OTHGBPS) in

their conference bag along with the list of participants (Annex 20134309D03-

000THGBIS), EURORDIS brochures (Annex 2O1343O9LFTGBPS7), Rare Disease Day flyer

(Annex 2O1343O9LFTGBPS8), RareConnect brochures (Annex 2O1343O9LFTGBPS9),

EUPATI brochures (Annex 2O1343O9LFTGBPS1O), registries book and evaluation

questionnaire (Annex 201343090THGBPS38). Copies of other documents were also made

available on tables in the conference venue for all participants at the conference to take.

These documents included brochures about other relevant EU Funded projects and

EURORDIS Fact Sheets (Annexes 20134309D03-O1OTHGBPS, 20134309D03-

O2OTHGBPS, 20134309D03-O3OTHGBPS and 20134309D03-O4OTHGBPS).

All speakers’ presentations were uploaded onto the conference website within two weeks

after the event. Information about the availability of the presentations was disseminated

by the conference organiser via email and via event partners. The page where all

speakers’ presentations have been uploaded onto the conference website has received

2035 page views to date. This figure attests to the broader dissemination of the

conference materials beyond the actual attendees of the conference.

A special ECRD 2014 supplement of the online Orphanet Journal of Rare Diseases will be

published in November 2014 and will feature 49 abstracts of speakers’ presentations and

poster board presentations. The link to the supplement will be uploaded onto the

conference website. The announcement about the availability of the supplement will be

disseminated by Orphanet, DIA, the EURORDIS newsletter database of over 7000

contacts representing the rare disease community, including policy makers, and to the

participants of the Conference. We have met our output target of publishing between 40

42

November 2014


and 60 abstracts of speakers’ presentations. This figure has increased from 41 to 49abstracts compared to the previous ECRD 2012 held in Brussels.

An Executive Summary of the Conference will become available in November 2014. Theelectronic document in PDF format will be uploaded onto the conference website and thelink disseminated by the conference organiser via the EURORDIS newsletter databaseand by event partners, in particular the DIA. Approximately 150 printed copies will beprinted and sent to the members of the Steering Committee, Scientific Committee,EURORDIS Board of Directors, officials at the European Commission and EuropeanMedicines Agency. The Executive Summary of the Conference will also be available uponrequest to any interested party.

Outcome evaluation

Outcome indicators:

1. Number of attendees at the conference, the satisfaction level versus

expectations, the quality content, the actual networking. The final number

of attendees at the conference was 768. This figure exceeded our expectations of

700 on-site participants. The categories of participants that exceeded our

projected attendance were patient representatives who are members of

EURORDIS, academics / health care professionals and medical students. This can

be explained by the increasing number of EURORDIS members as well as the

contra-deals that were negotiated with medical journals and healthcare media

such as Media Planet UK (Annexes 201343090THGBPS45 and

201343090THGBPS46), Media Planet Germany (Annexes 201343090THGBPS47

and 201343090THGBPS48), Informa Healthcare (Annexes 201343090THGBPS49

and 2O1343O9OTHGBPS5O) and BioMed Central that were solicited to advertise

and promote the conference to researchers and health care professionals. From

the evaluation forms that were completed by participants (16.2% overall

response rate), 95 % of respondents rated the conference ‘good’ or ‘excellent’.

This compares favourably to the ECRD 2012 conference that registered a 92.8%

satisfaction rating by respondents of the evaluation forms. In terms of the extent

to which the conference met or exceeded the expectations of participants, 73% of

the respondents said that the conference equalled their expectations and 25%

said that the conference exceeded their expectations. The equivalent figures from

the ECRD 2012 conference were 70% and 26.4% respectively. This shows a

positive overall progression in satisfaction level and expectations. The quality of

the content was measured by a question about the overall programme. 60% of

the ECRD 2014 respondents rated the overall programme ‘good’ and 35°k rated it

‘excellent’. This compares to 57.3% and 29.9°h at ECRD 2012. The opportunities

for networking on-site were multiple and included the coffee breaks, lunches,

poster sessions, welcome cocktail that was held for all participants at the end of

the first day of the conference and a farewell coffee that was held at the end of

the second and final day of the conference.2. Total number of patient fellowship applications received and granted. A

Call for Fellows (Annex 201343090THGBPS51) was disseminated to all patient

organisations in the EURORDIS contact database representing over 1900

contacts. A total of 56 application forms from 23 countries were received (Annex

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November 2014


201343090THGBPS52 = Application form). The selection of fellows was made by

an ad-hoc committee that included EURORDIS staff members associated with

membership and volunteers. A total of 40 full fellowships were granted. However,

6 of the fellows cancelled their participation at the conference due to personal

reasons and one of the fellows was invited to be a speaker at the Conference. A

total of 33 fellows were present on-site at the ECRD 2014 representing 18

countries. The mutual commitment of these patient fellows is to produce a short

report to share their testimonies and analysis of their own country’s situation with

respect to access to rare disease information, treatment, care and services.

3. Number of posters submitted will measure the impact and pertinence of

the conference topics. The overall number of posters submitted to the ECRD

2014 was 287. This figure represents an increase of 59% compared to ECRD

2012 and illustrates the increased impact, outreach, notoriety and pertinence of

the Conference and its topics.

4. Number of speaker abstracts selected and published on the Orphanet

Journal of Rare Diseases post-conference will measure the quality and

standard of the speaker’s presentations. The number of speaker and poster

abstracts selected and submitted for publication in November 2014 for the special

ECRD 2014 supplement of the Orphanet Journal of Rare Diseases was 49. This

compares to 41 in 2012 and illustrates the progressive standard of the speaker’s

presentations and the quality of the posters.

5. Number of speakers’ presentations consulted and downloaded online via

the dedicated conference website and partner websites will be an

indicator of the broader dissemination of the conference materials

beyond the actual attendees of the conference. The number of unique visits

to the dedicated page for speaker’s presentations on the official conference

website currently stands at 1517. Visitors often return to the page to consult

other presentations, when taking this into consideration, the total number of

page visits is 2035. It is not possible to obtain statistics on the number of

downloads via this page, only the number of visitors to the page. Event partners

disseminated the availability of the speaker presentations to their networks and

provided a link to the dedicated page on the conference website. The figures

above attest to the broader dissemination of the conference materials beyond the

actual attendees of the conference.

6. Number of Executive Conference Summary electronically disseminated

throughout Europe and worldwide. The Executive Summary of the ECRD

2014 is not available at the time of submission of this report. It will become

available in November 2014 and will be broadly disseminated in electronic format

to the full EURORDIS database list of more than 7000 contacts worldwide,

participants of the ECRD 2014 and by our event partners, notably DIA, Orphanet

and EuropaBio. Approximately 150 printed copies will be produced and sent to

the members of the Steering Committee, Scientific Committee, EURORDIS Board

of Directors, officials at the European Commission and European Medicines

Agency.

Discussion in relation to conference objectives

The objectives of the European Conference on Rare Diseases & Orphan Products are:

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November 2014


Objective 1: To disseminate the most up-to-date health information related to the raredisease environment to all relevant stakeholders (patients and patients’ representatives,academics, health care professionals, industry and policy makers)

This objective was achieved by the development of a robust conference programme bythe Scientific Committee and Theme Leaders and through the identification and selectionof pertinent speakers who deliver up-to-the-minute presentations and health informationrelated to the rare disease environment. The organisation and actual achievement of the7th European Conference on Rare Diseases & Orphan Products itself, with simultaneousinterpretation from English into 5 languages addressed to 768 participants, was theculminating factor associated with achieving this objective.

Objective 2: To demonstrate the importance of EU actions in the field of rare diseasesand review progress made to date

The format of the Conference - which included Opening and Plenary sessions,simultaneously interpreted from English into 5 languages - allowed speakers to elaborateand demonstrate in-depth the importance of EU actions in the field of rare diseases.Every speaker made a reference to different aspects of EU actions in the field of rarediseases, such as the Commission Communication and Council Recommendation on RareDiseases; the EU funding for research into rare diseases which has been steadily growingin the last 15 years; the achievements of the IRD1RC as an international collaborativeinitiative in which Europe has a strong co-leadership; the support to national plans andstrategies on rare diseases from the EUROPLAN project and the Joint Action on RareDiseases; the EU platform for rare disease patients’ registration to be establishedtogether with the Joint Research Centre of the European Commission; the Cross BorderHealth Care Directive and the legal basis it provides for Centres of Expertise andEuropean Reference Networks; the EU Orphan Medicinal Products Regulation and theimpetus it gives to orphan drugs development; the work of the EUCERD and of thesubsequent Commission Expert Group on Rare Diseases.

For more details on the inclusive analysis of the importance of EU actions in the field ofrare diseases and review of the progress made to date, please find below an executivesummary of selected speakers:

- The first Keynote Address was given by Irene Norstedt, Head of Unit, PersonalisedMedicine, in the Directorate for Health Research at the DG Resesarch & Innovation,European Commission. Ms Nordstedt began by stressing that the leitmotiv for the workon rare diseases is collaboration. Rare diseases are a challenge far too big to masteralone. Unmet needs are still huge, and there is much more to be done, not only inEurope. Collaboration is key, as resources in the field are scarce and scattered.

Ms Norstedt summarised the increase in funding that rare disease research received fromthe European Commission: from 64 million EUR and 47 projects funded in its 5th

Research Framework Programme (FP5), the Commission invested 620 million EUR andsupported close to 120 collaborative projects in its 7th Framework Programme (FP7)thatended in 2013. This adds to more than 100 individual fellowships, grants and trainingnetworks.

EC-funded research for rare diseases range from natural history and pathophysiology, toin vitro/in vivo models, registries & bio-banks, identification of biomarkers, clinical trialsmethodologies for small populations, -omics for rare diseases and linking data, as well asdevelopment of preventive, diagnostic and therapeutic interventions.

Ms Norstedt mentioned some exemplary projects, such as:

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November 2014


ALPHA-MAN that received funds over three Research Framework Programmes,

from FP5 to FP7, having progressively advanced research over time from

biochemical characterisation of mutations in the alpha-mannosidase gene

(MANB)to clinical trials in patients

• EuroGentest started in FP6 and then under FP7 contributed to the harmonisation,

validation and standardisation in genetic testing, helping bring genetic testing to

healthcare

• ENRAH set up a European Network for research on Alternating Hemiplegia in

Childhood and was a good example of patients taking the lead. As a result of the

project, de novo mutations were identified as the primary cause of AHC, also

offering insight into disease pathophysiology

• E-RARE is an example of networking activity pulling together resources and

funders from EU Member States and beyond

Ms Norstedt then presented the achievements of the International Rare Disease Research

Consortium (IRDiRC), an international collaborative initiative launched by the European

Commission and the NIH to stimulate, coordinate and maximise outputs of rare disease

research efforts around the world. IRDiRC was created in 2011 with the ambitious goals

of delivering 200 new therapies for rare diseases and the means to diagnose most rare

diseases by 2020. Collaboration is crucial to achieve these objectives: to date IRDiRC

counts almost 40 partners from four continents and a variety of actors — regulators,

patients, industries, agencies, charities.

Ms Norstedt added that the European Commission continues its commitment to research

under the new Research Framework Programme, HORIZON 2020, which sets aside over

7 billion EUR to health research only. The new Framework Programme will continue to

support rare disease research and the actions necessary to meet the commitments made

in the framework of the IRDiRC. She closed her intervention by emphasising that the

European Commission wants therapies to come to patients and, to this end, the

integration of patients in research is vital.

- This Keynote Address was seconded by the Parliamentary State Secretary to the

Federal Minister of Health, Germany, Annette WIDMANN-MAUZ, who acknowledged the

ECRD as the most important European discussion forum for rare diseases. Ms Widmann

Mauz recalled the paradox of rare diseases: while only a few people suffer from each

disease, altogether 4 million people in Germany alone are affected and possibly 36

million in Europe.

Ms Widmann-Mauz stressed the need to give special attention to people living with a rare

disease because for too long they have been neglected by public concern. People living

with a rare disease not only suffer from their disease but also from the cost of

treatments, difficult access to care and other disadvantages.

She recalled the role of the EU Council Recommendation on an action in the field of rare

diseases adopted in 2009, and the important consultation process carried out for a

national plan in Germany with the almost 30 partners in NAMSE. Over 50 proposals were

agreed upon that aim to improve the life of people living with a rare disease and

numerous projects of those identified in the plan will receive public funding, including

those contributing to the standardisation of rare disease codification and to setting up of

the JRC European platform on registries.

It is important, added the Parliamentary State Secretary to the Federal Minister of

Health, that international and national specialists work together in order to decipher the

puzzle that rare diseases present. The German National Plan will not only collect

information at the national level, but also will contribute to cross border knowledge

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November 2O1


through its national Centres of Expertise that will form the basis of the EuropeanReference Networks.

- Avril Daly, Vice President EURORDIS, stressed during her Keynote Address thatEURORDIS believes strongly in a comprehensive approach to the delivery of care andessential services for those affected by rare diseases, their families and carers - and hasestablished a broad patient movement across Europe with more than 600 memberorganisations in over 55 countries, creating a strong, unified voice of rare diseasepatients central to policy development.

Ms Daly recalled that the European regulatory and policy framework is now welldeveloped and, while continuing to maintain it, focus must shift now to theimplementation of national plans and strategies at the national/local levels. EURORDIS ispreparing for this next phase by strengthening its movement and aligning NationalAlliances and EURORDIS on Common Goals and Mutual Commitments, and by involvingisolated patients through the moderated online patient forum RareConnect. Otherinitiatives include the campaign for the European Year for Rare Diseases in 2019, aimedto increase awareness and political support; international groups, such as NORD, CORD,IPOPI, preparing a long-term strategy on European Reference Networks, Centres ofExpertise and Healthcare Pathways, as well as patient mobility across the EU and theirlinks to integrated research infrastructures; and always being mindful of potentiallyemerging ethical and societal challenges that cannot be ignored.

- The Plenary Session opened with a Keynote Address by John Ryan, Director for PublicHealth at the European Commission, DG Health and Consumers (DG SANCO) who evokedthe Commission Communication of 2008 and the Council Recommendation that followedthe year after. Pulling limited resources, the European Commission focused on therecognition and visibility of rare diseases with the aim of supporting policies in MemberStates and coordination among them. This led to the adoption of a “soft law” on thedefinition of rare diseases, codification, European Reference Networks, gatheringexpertise at the EU level, empowerment of patient organisations and sustainability. TheEuropean Commission (EC) is publishing a report on the implementation of thisRecommendation in the Member States.

The number of people affected by rare diseases in the EU is estimated between 27 and36 million; rare diseases are a public health priority as an area of high EU added-value:pulling resources in public health projects supported by the European Commission so farshowed the added value of working together.

The Council recommended the adoption of national plans and strategies, preferablybefore the end of 2013, to help overcome the lack of initiatives in certain Europeanhealthcare systems that result in late diagnosis and inadequate care. The EC-fundedproject EUROPLAN aimed to support the development of national plans and strategies, asupport that is now secured through the EUCERD Joint Action: Working for RareDiseases.

Before 2009, only four Member States had such a plan (France, Portugal, Bulgaria andSpain) but by January 2014, 16 EU countries had adopted a national plan or strategy,while seven more were at an advanced stage of preparation. The implementation ofthese plans varies considerably across Member States, because funding often comesfrom the general healthcare budgets, at the present time heavily under pressure due tothe economic crisis. Moreover, plans/strategies for rare diseases in Europe are atdifferent stages of the process: some have just been adopted, others are moreadvanced. Additionally, there is some confusion as to the areas that are covered in theplans. Notably, rare cancers are part of the scope in some countries and excluded inothers.

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November 2014

Fna! Report — Chafea Conference Grant Nr: 20134309

When it comes to the definition of rare diseases, there are still some discrepancies, as

not all EU countries adopt the recommended definition that any disease affecting fewer

than 5 people in 10 000 is considered rare. In Sweden and Denmark, for instance, it is

required that no more than 500 people in the overall country population are affected by a

disease for it to be considered rare.

Regarding codification, all Member States are using the World Health Organization ICD-9

or lCD-b codification systems from which most rare diseases are absent. Recently in

some countries Orpha Codes have been added to integrate the lCD codification and the

EC is looking at ways to support such initiatives.

Concerning access to proper information for patients, Orphanet has expanded to include

over 6000 diseases, as well as features for queries and a database for best practice

guidelines.

At the national level, only a few Member States have specific programmes targeting rare

diseases while in most countries support for research on rare diseases comes from the

general research programmes.

At this time, 588 rare disease registries have been identified, most of which are

established in public or academic institutions and only a minority managed by industries,

biotechs or patient organisations. A platform to improve quality, comparability and

sustainability of registries and databases for rare diseases will be created in collaboration

with the Joint Research Centre (JRC). The platform’s main objectives will be to provide a

central access point to relevant information for all stakeholders, as well as to support

new and existing registries, to develop their interoperability by developing the necessary

IT tools and to secure their surveillance. The EC hopes that the initiative will lead to a

substantial quality increase and long-term sustainability of rare disease registries, in the

same way the EC is doing in relation to cancer data.

Concerning Centres of Expertise, Directive 2011/24/EU on Patients’ Rights in Cross-

border Healthcare, that ensued rulings of the European Court of Justice on the matter,

recognises the right of patients to seek treatment in other EU Member States. The

Directive clarifies patients’ rights to seek treatment abroad and establishes firm bases for

cooperation among national authorities: it is the first time that collaboration between

centres is laid out so clearly. In compliance with the Directive, the EC in March 2014

adopted the Delegated and Implementing Acts that set out the criteria and the conditions

for European Reference Networks (ERN5) and for those healthcare providers joining the

networks.

Article 13 of the cross-border healthcare Directive addresses rare diseases specifically

and provides specific tools for patients affected by these conditions travelling within the

EU.

In relation to Centres of Expertise (CE5), Member States have taken different approaches

within their healthcare systems. Some countries have officially designated Centres at

national and/or regional level. Criteria vary across countries but altogether they are often

in line with those laid out in the EUCERD Recommendations on Quality Criteria for CEs.

On the topic of patient empowerment, the extent to which patients are the “motor” of the

process is recognised - their activism is crucial. According to Orphanet, 2512 specific

patient organisations exist that are established at the EU, national and regional levels. All

national authorities when asked by the EC have declared engaging patient groups in their

policies on rare diseases.

For the treatment of rare diseases, the Orphan Drug Regulation is still the reference

legislation. However, most rare diseases lack a specific treatment. More than 1000

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November 2014


products have been designated in the EU as ‘Orphan Medicinal Products’ and over 90have been granted marketing authorisation at the time of the ECRD 2014 Berlin. Despitethe existing incentives, Orphan Medicinal Products are not equally available to patients inall Member States, as their availability depends on the national systems, with economicconditions having an impact as well.

Working Groups have been established in order to ensure better coordination amongMember States in the evaluation of orphan medicinal products, with the objective toboost real access in EU countries.

For newborn screening, in the 2008 Communication on rare diseases, the EuropeanCommission committed to conducting an evaluation of current population screening(including newborn screening) schemes for rare diseases and potential new strategies.The mapping covered centres, disorders screened, and the number of infants covered.The results highlighted a very diverse landscape across Europe. The EUCERD adopted anOpinion on the areas of potential collaboration amongst Member States including, forinstance, Standard Operating Procedures for communication to patients, guidelines forpatient management, information material for parents training schemes, and networkingbetween laboratories. The establishment of key public health indicators would also beimportant.

Regarding governance at the EU level, the European Commission established aCommittee with an advisory role, the EU Expert Committee on Rare Diseases, EUCERD,which was mandated from 2009 to 2013 and delivered five sets of Recommendations, abimonthly newsletter and annual reports on the state of the art of rare diseases inEurope.

The new Commission Group of Experts on Rare Diseases, which replaced the EUCERD,met in February 2014 for the first time and hopefully will be instrumental in advancingrare disease policy in the EU.

Mr Ryan was pleased to see that many people came to ECRD 2014 Berlin from outsideEurope. The EU and its Member States are seen as leaders in developing actions on rarediseases and it will be beneficial if they can influence other countries. There are examplesof specific actions outside Europe: for instance, Orphanet is a truly global source ofinformation, currently embedded in the EUCERD Joint Action, and taking part in theupdate of ICD-10; IRDiRC is another example of European co-leadership at theinternational level.

In conclusion, progress has been made and cooperation between Member States andstakeholders has improved. The preparation of national plans and strategies for rarediseases proved to be stimulating and effective even though some Member States do notyet have a plan, as many are in the final stages of development. The adoption andimplementation of National Plans remains a key priority for the European Commission.

The Commission intends to maintain its coordination role in support of national plans andstrategies. It also wishes to use its main relevant funding programmes, the Public HealthProgramme and Horizon 2020, to support rare diseases as a priority, and specifically theIRDiRC, the codification of rare diseases, the development of European ReferenceNetworks, the identification of e-health solutions in the area of rare diseases, as well asthe creation of a platform for rare disease registration, an initiative that will demonstrateleadership at the global level.

Rare Disease Day is an example of effective mobilisation and the Commission would behappy to find a way to support this initiative.

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November 2014


A roundtable discussion followed Mr Ryan’s Keynote address. The discussion centred

around the main challenges that remain in the areas of organisation of healthcare,

research, and the development and availability of orphan medicinal products in Europe.

- Kate Bushby, Professor of Neuromuscular Genetics at the Institute of Genetic Medicine

of the University of Newcastle, UK, identified three key challenges for the time ahead:

the harmonisation of standards of care; the way expertise, advice and services are

supported and care is coordinated; and the pathways for patients to access diagnostics

and treatment.

The process of concentration of expertise has been taking place for some time and it is

now time to build networks to make sure that patients are diagnosed and offered care.

Investment in Centres of Expertise and European Reference Networks is necessary as

there are still major gaps. Filling these gaps is possibly the greatest challenge both for

well-known and less understood diseases. In the process of designation of Centres of

Expertise the challenge is to support and define them. A driver in this process is the

possibility for a Centre to become part of a European Reference Network in the future. Pr

Bushby stated that in her experience networks can work: it is now a priority to ensure

support for these networks, especially financial support, in order to make them a reality

and give all rare disease patients a home in the long run. In particular, funding European

Reference Networks is a big challenge in a context of numerous economic pressures.

Centres that are to be part of European Reference Networks need to show that they can

meet standards over a certain period of time. For the functioning of European Reference

Networks, it is vital to secure “glue money” for the networks: this is especially important

where services are less developed or for areas/diseases that are less developed.

John Ryan recalled that EU Health Ministries are concerned by the financial and

demographic crisis, its impact on healthcare systems and the difficulties to maintain

standards of care. Chronic diseases, in particular, add pressure and it is unavoidable that

policy-makers must make choices on what services to maintain. Financing new services

appears therefore particularly challenging. A “European legal route” would help EU

Ministries when negotiating budgets, as having clear EU guidance on a given matter does

carry some weight and has an impact on national Ministers’ financial decision-making.

There is a strong case for improving care closer to patients: expert centres still need to

develop these guidelines, which should take into account input from patients and

families.

- Dr Ségolène Aymé, Director of Research and International Affairs at ORPHANET

INSERM, France, reported that due to sequencing, research on rare diseases has

significantly accelerated its pace, but it is still almost impossible to interpret data as most

of the background data that are necessary are not known. Databases storing data on

sequencing are in ten major repositories around the world that do not communicate with

each other. Hence we lack the global picture of what is currently known. Databases for

this purpose should be created and dialogue should be made possible. These solutions

are expensive however and require specific decisions to be taken.

In order to speed up the discovery of natural history and pathophysiology of diseases,

while it is not possible to set up registries for all rare diseases, creative solutions need to

be found: for example by optimising costs, linking electronic health records that already

exist or solving the coding issues to assign a clear diagnosis to each given patient. This

latter component is on its way: progress is to be expected in 2016.

Finally, Dr Aymé called for a cultural change that consists of the acknowledgement of the

need for academics and industry to work together. In isolation, academic research is not

as successful as hoped and industry struggles to develop research in all fields. Resistance

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November 2014


to this cultural shift should be overcome by creating a common pot and commonapproach as the best way to make sure that years of research and resources are notwasted.

- Serge Braun, Chief Scientific Officer, AFM (Association Francaise contre LesMyopathies), France, noted that IRDiRC objectives imply that we still need someadditional 100 OMPs on the market in the next six years. Many developers strugglethrough the regulatory process and creative solutions are also needed in the regulatoryfield. We need a learning process where all stakeholders are collaborating, including theEMA. The European Medicines Agency, in particular, needs to interact more closely withthe FDA, and other collaborations need to be fostered and improved: patientorganisations should cooperate more in public-private partnership and with industry, asthere are plenty of opportunities out there. For industry it is important to remember thatrare diseases are a model for more common disorders as well.

- Tsveta Schyns, Executive Secretary and Founder of the European Network for Researchon Alternating Hemiplegia (LNRAH), spoke about the numerous genes discovered, thenew technologies bringing more information and the role of patients in this fast evolvingscenario. A new approach to the design of bio-repositories needs to be developed and putin place. With the availability of new sequencing technologies, the discovery of newvariants and genes, if patients are not fully involved in the process, results may be faultyand patients will not receive the information on the research they are concerned about,and, in many cases, to which they have contributed.

- Wills Hughes-Wilson, Chief Patient Access Officer at SOBI, Sweden, focused ontherapies development and what needs doing in this area, inviting the audience toconsider patient access to orphan medicinal products as a pathway. She called for acollaborative and multi-stakeholder approach from start to finish, whereby all initiativesare brought together for ensuring better and uniform access to orphan therapies. MsHughes-Wilson stressed that we should work with the end in mind: the fruit of researchis treatments in the hands of patients. If years ago each player strived to do their part inthe overall pathway, today it is clear that that all actors need to think of the whole pathand how they are going to connect with each other and other endpoints along the way.

Initiatives such as the CAVOMP, adaptive licensing, parallel Scientific Advice/ProtocolAssistance, and multi HTA advice are all extremely positive, but they are not going todeliver if all those concerned do not join together to deliver the end goal. Everystakeholder has to play their role: if someone has to do the first steps, all actors areinvited “to go and dance on the dance floor”.

- Pauline Evers, from EGAN, the European Genetic Alliances Network, underlined theimportance of taking into account how the lives of patients are affected by newmedicines. Patients have many stories to tell that are relevant for the entire process ofnew medicines development. Not only chemical parameters and statistics, but alsopatient reported outcomes, with their real life elements, need to be part of the picture.Patients need to be involved from the very start of the programme. Insurers should alsobe involved so they can help make sure that products do not remain on the pharmacyshelves.

- Bruno Sepodes, Chair of the COMP (Committee for Orphan Medicinal Products) of theEuropean Medicines Agency, recognised the role of patients in showing value to allstakeholders involved. With 200 therapies due for 2020, the workload for the COMP isremarkable. However, the regulator is keen to support the development of products thatcan make it to the finish line. Dr Sepodes compared the whole process to a ‘marathon’that needs to be run side by side. Scientific Advice and Protocol Assistance are wonderfulservices available to sponsors and are instrumental to the achievement of 200 medicineson the market by 2020. All stakeholders need to share knowledge, and dialogue with

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November 2014


regulators needs to start as early as possible in the process to increase the chances of

success.

As for patient participation in the regulatory process, the COMP Chair recalled how this is

essential in his Committee and expressed a wish that patient representatives will also

soon join the CHMP.

- Durhane Wong Rieger wrapped up the roundtable discussion by stressing that the

agenda needs to be pushed further by partners willing to play together. Policy-makers

from different regions also need to work together. This would be a great step forward

and provide an example of how to bring the pieces of the puzzle together.

Objective 3: To elaborate strategies and mechanisms for developing further exchange of

information between stakeholders: people living with rare diseases, volunteers, health

professionals, policy makers, researchers and industry at national and EU levels

The parallel sessions, which followed the Opening & Plenary Sessions, addressed specific

issues and were used as fora to stimulate further exchange between all stakeholders in

the elaboration of specific strategies and mechanisms. These sessions included the

following topics: Centres of Expertise, European Reference Networks, the challenges of

healthcare pathways, quality and access to diagnostic services and diagnostic possibilities

for undiagnosed patients; Registries, collaborative models to progress research,

codification of rare diseases, the impact of social media in a virtual world; Challenges

around research into rare diseases; Innovative practices in development of rare disease

therapies, including the collaboration between EMA and HTA, off-label uses, shortages;

Emerging concepts and future policies to improve access to rare disease therapies,

including early dialogues and horizon scanning, EMA/FDA collaboration, patient

progressive access schemes and patient involvement in benefit-risk assessment,

Mechanism of Coordinated Access to Orphan Medicinal Products (MOCA), transparent

value framework and managed entry agreements, differential pricing; Social care, social

policies and services, and challenges beyond medical care.

All of the 90-minute parallel sessions were structured in such a way as to present up-to-

the-minute information by 119 relevant experts (speakers and panelists) in the field.

Knowledge sharing was encouraged as was the exchange of experiences from real life

and best practices. The last 30 minutes of each session were dedicated to questions from

the audience. Discussions frequently continued into the coffee breaks and during the

lunches.

Objective 4: To exchange knowledge and best practices on all relevant health issues

related to the rare disease environment;

The 36 parallel sessions that took place over the last 1.5 days of the Conference were

aimed at addressing all relevant health issues related to the rare disease environment.

Knowledge sharing was encouraged thanks to a limited number of presentations per

session, followed by adequate time for questions and inter-active discussion with the

audience. Where possible, all stakeholders’ viewpoints were heard including those of

patients, academics, health care professionals, policy makers, regulators, national

authorities and industry. The exchange of experiences from real life and best practices

were privileged, cooperation and networking were stimulated and awareness increased

while ensuring continuity of action and avoiding duplication of efforts.

Objective 5: To sustain efforts for rare disease policies at both the European and the

national level;Objective 7: To present specific, achievable objectives at both European and national

levels in order to reduce health inequalities for rare disease patients.

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November 2014


Objective 5 is closely linked with Objective 7 and these two complementary objectivesmay be usefully addressed together. In fact, the efforts in favour of elaborating, adoptingand implementing rare disease policies (objective 5) do in practice aim at reducing healthinequalities for rare disease patients (objective 7): The main common challenges facingrare disease patients derive directly, or indirectly, from the rarity of the differentpathologies which aggravates health inequalities for rare disease patients compared tothe situation of patients living with more common diseases for which relevant knowledge,expertise and support exist. Therefore, sustaining efforts for policies addressing rarediseases does also help to reduce health inequalities for rare disease patients.

In this context, the European Conferences on Rare Diseases have proven over the yearsto be a de facto training tool for participants from all categories (patients and patients’representatives, academics, health care professionals, industry and policy makers) wholearn from each other through the presentations but also through the networkingactivities on the side of the official programme.

The improved format compared to previous conferences that allowed for an increasednumber of parallel sessions to be organised with a broader range of topics, participantsand speakers, was maintained at ECRD 2014 Berlin. The opportunities for learning andsharing with all individuals involved were very much appreciated by all participants. Theoverall knowledge gathered and disseminated through such a Conference programmeand participation does enhance the quality of participants’ work at their different levels ofaction: relevant stakeholders acting at local, regional, national and European levels havehad the possibility to receive - and give - information, exchange experience and expertisethereby generating enhanced knowledge which is useful for their own strategy in thefollowing activity areas:

- Development, implementation and monitoring of national plans/strategies for rarediseases, which is the fundamental element of building a comprehensive approachfor rare diseases at national level while ensuring an overall coherence throughoutEurope, and at EU level overall;

- Creation, designation and management of national centres of expertise for rarediseases (prioritisation and quality criteria) and the establishment of a Europeansystem of RDs European Reference Networks, including issues related to patients’empowerment, patients’ involvement in the governance of the ERNs, evaluationand assessment of the ERNs, cross-border diagnostics and genetic testing;

- Dissemination of information on relevant health issues to make rare diseasesvisible in society, visible for research, public health and budget decisions, with theaim of improving care for patients and reducing inequalities in the rare diseasesfield;

- Research into rare diseases, at both EU and national levels, and its impact oninnovation, including research infrastructures, patient registries, issues related todata protection and legal barriers to research, as well as public privatepartnerships;

- Orphan products and rare disease therapies, development and access, includingthe regulatory aspects of drug development, shortages in authorised medicines,off-label uses, increase EMA/HTA collaboration in rare diseases, empoweringpatients in drug development, early dialogue and horizon scanning, innovativeapproaches to improving patients’ access to orphan medicines;

- The empowerment of patients and their families, including patient generatedknowledge that is fundamental to improve both medical and social care and thespecific social challenges facing rare disease patients and their families.

All the presentations and interactions in these crucial activity areas help sustainingefforts to be made at national and European level to elaborate/implement rare diseasepolicies/strategies and to help identify objectives to reduce health inequalities. Thesessions of the Conference programme have inspired all participants from the differentstakeholder groups about what has been achieved in other countries and can therefore

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November 2014


be feasible elsewhere, with the necessary adaptation to national and/or regional

situations.

Objective 6: To stimulate dialogue on policies for rare diseases in some of the Member

States having recently joined the EU;

Representatives from 15 Eastern European states were present at the ECRD 2014:

Bosnia and Herzegovina, Bulgaria, Croatia, Czech Republic, Georgia, Hungary, Latvia,

Republic of Macedonia, Poland, Romania, Russian Federation, Serbia, Slovakia, Slovenia

and Ukraine. In total, participants from Eastern Europe represented ll.2% of the overall

participants.

The ECRD 2014 has gathered a significant proportion of new Member States and given

important means and arguments to rare disease patients in this part of Europe. The

experiences and good practices which have been shared will then need to be adapted to

local, regional and national specificities in order to be used as powerful tools for the

benefit of the whole rare disease patient’s community in the Member States having

recently joined the EU.

In some of these countries, the reflection process on policies and strategies in the field of

rare diseases has been lagging behind given the fact that crying priorities have been felt

in other areas. Furthermore, the culture of dialogue and civil society representation is still

in its development phase in some regions. In this framework, the exchange of experience

and good practices in terms of policy shaping and expression of patients’ voice has been

largely beneficial to encourage patients and patients representatives, but also health

professionals and policy makers to launch and structure an inclusive dialogue on policies

for rare diseases amongst all relevant stakeholders.

Major results and key findings

Key Findings:

The European regulatory and policy framework relevant to rare diseases has substantially

improved in the last 15 years: 15 years ago, people living with a rare disease in Europe

were isolated and ignored by the Public Health system; today, rare diseases are

recognised as a public health issue that deserves attention and funding.

From the Conference presentations, discussions and questions and answers sessions, it is

clear that now and in the coming years, the focus has to be placed on:

- securing continuity and consistency both within the regulatory and policy

frameworks established at European level (overall coherency is not always

respected) and between the different national policy contexts and the EU

framework- implementing the actions foreseen by the legislative and regulatory frameworks,

bringing some activities and initiatives to the next level, and establishing

appropriate shared infrastructures;

- achieving more tangible results for patients, in terms of concrete improvement in

their quality of life and survival;

- addressing the huge unmet medical and social needs of people living with rare

diseases: no curative treatment has yet been approved; only 200 rare diseases

have a medicines approved for some clinical aspects of their diseases; few rare

diseases have a best practice guideline of clinical care; data collection is still

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November 2O1


fragmented and insufficient, pan-European registries are only for few rarediseases; research infrastructures are at their early stage of development.

The challenges that the rare disease community will have to face in order to ensure thatcurrent and future initiatives and policies will optimise the existing opportunities for theconcrete benefit of patients should not be underestimated. For instance, while arguingthat the Orphan Medicinal Products Regulation is a success, it is also undeniable that realaccess for rare disease patients is not secured.

An improved legislative and regulatory framework also needs proportionally dedicatedfunding from the public sector, as well as innovative approaches and mechanisms toaddress budget restrictions, including public private partnerships.

The integration of Centres of Expertise designated at national level within wider EuropeanReference Networks will also represent a challenge that needs to be addressed atEuropean level in collaboration with national authorities, healthcare professionals, patientgroups and experts.

Major results:

If only one major result of the ECRD2O16 had to be expressed that would be the focusplaced on the widely recognised need for inclusive collaboration, between MemberStates, between the national and the European level, at global level, between the FDAand the EMA, and between all stakeholders. The need for enhanced dialogue -

encompassing all relevant interested parties - has been the leitmotiv throughout thededicated sessions by theme, and all along the two-day Conference.

This in-depth acknowledgement of the need for collaboration has been as rightlyunderlined by Irene Norstedt, from the European Commission in the plenary session:cooperation is definitely the key word in the field of rare diseases. Throughout theConference and in all the different areas addressed, it has been reiterated thatcooperation is needed between all stakeholders, at all levels of decision-making, as wellas between researcher teams, and also in the shape of Public / Private Partnershipsagreements, such as the IMI initiative.

The shared recognition of the importance of the role of patient groups, individual patientsand their representatives is also a major result from the Conference. The Programmeallowed to illustrate that patients’ involvement in identifying research priorities, settingup registries, advancing policies and launching initiatives, the usefulness of patients self-reported outcomes, the need for patients’ involvement in assessing benefit/risk and intherapies development, in identifying medical and social challenges, in joint efforts aimedat improving patients’ autonomy, are all elements underlining the emergingacknowledgement of the increasing role that patient groups are demanded and expectedto play, highlighting the need for capacity-building activities and patients’ empowerment.

What has come across very clearly as well, from the different presentations and unofficialdiscussions during the several networking opportunities, is that there is a striking needfor this biennial event which constitutes the major reference event gathering the wholerare disease community which is eager to share their experiences, challenges, needs andexpectations. The value of the European Conference on Rare Diseases and OrphanProducts lies both in the Conference official programme, as well as in the more informalnetworking throughout the event.

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November 2014


Target groups and added value

The target groups have been separated into different categories and the ways in which

each group benefit from this conference are explained hereafter:

1) All rare disease patients and patients’ representatives throughout Europe and beyond

benefit from the knowledge and information generated and disseminated about rare

disease policies and actions at a European and national level and also directly benefit

from the networking opportunities and information exchange with other patients and

sta keh old ers.

2) Academia & scientists active in the field of rare diseases and in particular leading

scientists involved in EU Funded Projects and all researchers benefit from the conference

by learning the most up-to-date information about policy orientations, concepts and

priorities concerning rare diseases at a European level and also benefit from the

networking opportunities allowing interaction with patients and industry representatives.

3) Healthcare professionals, in particular the health professionals of Centres of Expertise

identified and designated through national procedures, health professionals who will be

part of European Reference Networks, as well as health professionals reached through

Learned Societies, such as the European Society of Human Genetics, European

Federation of Internal Medicines & the European Academy of Paediatrics, are eager to

learn more about rare diseases and benefit from the experiences, best practices and

forum for exchange of ideas and networking that the conference provides.

4) Pharmaceutical and biotech industry representatives involved in orphan medicines

development benefit from the knowledge and information disseminated about policy

orientations, concepts and priorities concerning rare diseases at European and national

levels and directly benefit from the sessions on orphan products/therapies and the

networking opportunities with patients and policy makers.

5) Policy makers from around Europe working in the health domain, EU decision-makers

and representatives of Member States involved in different EMA Committees and

European Commission relevant committees such as the Expert Group on Rare Diseases,

benefit from the opportunity to explain the arguments underlying policies that have been

shaped and adopted but also they do benefit from the feedback given by the most

relevant stakeholders and interested parties active in the rare disease community

affected by their decisions/policies.

Rare diseases are now widely recognised as an area of very high European added value,

because the actions performed at EU level are the only ones that can overcome the

chronic lack of critical mass of patients, data, expertise and funding at a national level. In

this sense, a Conference gathering in one place, at one time, major experts, patients and

patients representatives, together with decision-makers and all relevant stakeholders

active in the field of rare diseases, is by essence adding value to concerned citizens.

There are approximatively 30 million EU citizens living with a rare disease, but if we

count also their families, friends, care-givers and loved-ones, the proportion of directly or

indirectly affected and concerned citizens is much higher.

In order to overcome the consequences linked to the rarity of each disease and the

limited size of each disease population at national level, there is the need to pool patients

and experts together, share good practices and real life experiences, enhance dialogue

between all stakeholders, reflect on developing common tools to advance research and

improve medical and social care (such as research infrastructures, registries, biobanks,

diagnostic and care guidelines, ways to integrate rare diseases into social services), and

on establishing innovative approaches to accelerate the development of - and facilitate

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November 2014


the access to — rare disease therapies. This is exactly what the European Conferences onRare Diseases and Orphan Products aim at achieving.

It is only through adequate EU co-funding dedicated to the organisation of such aConference, which is an integral part of the EU adopted strategy in the field of rarediseases, that this major reference event for the EU rare disease community can actuallytake place, thus underlining the EU pioneering spirit in this field and highlighting an areaof success of European collaboration. The Conference also draws attention to the factthat “Europe cares about its patients”, including the most isolated, vulnerable anddisadvantaged ones.

Major problems and lessons learned

The major problem faced by the conference and that was unforeseen was the lower thananticipated participation by pharmaceutical and biotech representatives. This problemwas not addressed in our risk analysis and contingency planning and was brought to theorganiser’s attention by the process indicator that measured, on a monthly basis, thenumber of registrations by category of participant.

Therefore, in view of the low registration figures recorded for pharmaceutical industryrepresentatives on 28 March 2014, numerous initiatives were put in place throughoutApril in order to outreach more to this category of participant and stimulate registrations.The actions included specific emailings to members of the EURORDIS Round Table ofCompanies comprised of over 40 pharmaceutical companies; the EURORDIS database ofindustry contacts comprised of over 350 individual contacts; German pharmaceuticalsyndicates via members of the ECRD 2014 Programme Committee who representindustry; paid advertising on the PMLive Orphan Drugs and Rare Diseases website;Twitter chat held on 23 April; lead story in the EURORDIS eNews on 9 April sent to morethan 7000 contacts including industry; dissemination via DIA, EuropaBio and EFPIAnewsletters / member emailings; social media postings on EURORDIS facebook andtwitter accounts; and the distribution of flyers at relevant events attended by industrythroughout April 2014.

These efforts resulted in an increase in industry registrations from 56 to 94 (67.85%increase) in just over 5 weeks. The final number of industry representatives on-site was104. This was still inferior to our projected 130 industry participants included in ourbudget forecast. The revenue loss generated by this disappointing number of industryrepresentatives was partly counter balanced by the higher than expected success rate ofthe conference exhibition that exceeded our projected target of 7 exhibiting companies.The total number of exhibiting companies on-site was 11.

Please refer to the following section for the lessons learnt from organising thisconference.

Future recommendations

While the ECRD 2014 has been widely recognised as being a very successful event, weare planning to address differently the four main elements outlined below, as we willprepare for ECRD 2016: stronger implementation of the editorial line, greater effort inimmediate dissemination to a wider audience via online news, social media and media,stronger industry engagement, as well as tighter cooperation with local relevantrepresentatives:

1. The overarching conference theme will be integrated into the Plenary Session in a

more consistent manner. We will use a more cohesive approach when determining

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November 2014


the content and speakers for the Plenary Session and will follow a stronger

editorial line to ensure unity and coherence.

We will reconvene a wrap-up Plenary Session at the end of the Conference (to

replace the last session of each theme) in order to better communicate the main

outcomes and take-home messages of the whole Conference, linking the opening

plenary providing the state of the art and major challenges with the final plenary

providing a synthesis of innovative policy, game changers and new concepts as

discussed and developed during the parallel sessions of the different themes.

2. In terms of communicating the main outcomes of the Conference beyond the on-

site participants, we will investigate the feasibility of producing at the end of each

day a series of specific “ECRD news” to convey “live” the key messages from all

sessions. The “ECRD news” will be broadly disseminated in electronic format to

the EURORDIS database of 7000 subscribers of the EURORDIS newsletter, our

wide outreach in social media and via our event partners. It will also be made

available via the mobile application.

Taking this further, we will consider holding a press conference on-site and/or

releasing a series of press releases prior to, during and at the close of the

Conference.

At ECRD 2016, we will change the format of the evaluation survey to make it

much shorter and will consider splitting it into different themes such as venue,

programme, speakers, networking, website, etc. This will avoid participants

having to spend a long time completing the full evaluation form which is often a

deterrent.

3. In order to boost industry participation we will improve communication efforts

highlighting the unique features of the ECRD in a more direct and attractive

manner and targeting main decision makers within industry. We will promote the

Conference by distributing leaflets and “create a buzz” around ECRD2O16 in a

more regular and structured manner throughout the months preceding the event.

We will include industry representatives more broadly in our open calls for topics

which target all stakeholders.

4. In addition to the above, the other recommendation we would give to other

conference organisers is to work more closely with the host country

representatives and in our case the Genetic Alliance UK for ECRD 2016 and

associations on the ground to create excitement and support from the local

corn mu n ity.

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Further remarks

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November 2014

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