16106 PGM NEW - EURORDIS...18.00 – 19.00 Patient Groups Welcome Reception Friday, 27 May 2016...

26-28 May 2016 - Edinburgh

8th European Conference on Rare Diseases & Orphan Products

Game Changers in Rare DiseasesDelivering 21st century healthcare to rare disease patients:

Together we can change the future!

PROGRAMMEWith the support ofOrganised by

Co-organised by

#ECRD2016

8th ECRD Conference I 26-28 May 20162

On behalf of the European Organisation for Rare Diseases (EURORDIS) and DIA Europe, Middle East & Africa, it gives us great pleasure to welcome all stakeholders involved in rare disease diagnosis, treatment and care to the 8th European Conference on Rare Diseases & Orphan Products (ECRD 2016), in Edinburgh.

ECRD is the foremost meeting of the rare disease community and provides a unique platform across all rare diseases, across all European countries, and across all stakeholders. The first ECRD was held in Copenhagen 15 years ago, in 2001, and gathered more than 300 stakeholders from all interested parties in the rare disease community.

This ground breaking initiative had such a positive impact that there has been an ECRD held in different EU countries every 2 years since then, which has allowed the rare disease community to gather to monitor and benchmark relevant initiatives, drive the policy framework around rare disease diagnosis, treatment and care and to empower the rare disease community to drive change where it is needed most. Outputs from the meetings have informed national and local policy initiatives and are referenced in decision-making around the provision of services for the community.

This conference will address the issues that matter today to rare disease patients and those who support them, and will also anticipate the needs of tomorrow’s rare disease patients and families so that innovative and sustainable responses can begin to be developed. No matter what your involvement in the rare disease sector is, the ECRD is the platform to bring your challenges, opportunities and commitment to build better outcomes together.

Today, rare diseases affect an estimated 30 million people in the EU alone. Due to the low prevalence, national policy-makers find it a real challenge to fully meet the needs of people with rare diseases. We can help them to help us by building understanding and identifying areas where action can make a real difference. Cross-EU collaboration also offers a unique opportunity to build a more comprehensive and effective approach by working together, because in each Member State, patients are facing the same problems and challenges of access to information, to diagnosis, to care, to medicinal products and to appropriate support. A shared approach can foster better and more effective outcomes by working together.

In addition, increased awareness of rare diseases, as well as the opportunity to stimulate cooperation and knowledge-sharing at the EU level, are both of vital importance to ensure continuity and extension of health and related social policies on rare diseases across the EU.

After more than 20 years of work, developments in science and clinical care are coming together in a pan-European policy framework. The framework aims at reducing health inequalities, ensuring that rare disease patients can expect to be able to access services and support that reflect current scientific understanding and best clinical practice and that, where therapies exist, that they will not be unreasonably withheld. The ECRD gives us the platform to concretely demonstrate the importance of EU actions in the field of rare diseases and to allow us to review and evaluate progress to date.

The conference is structured with both plenary and parallel sessions addressing specific issues. The format is designed to encourage knowledge-sharing and debate, and we have integrated the exchange of real experiences and best practices into the programme. Most importantly, the opportunities to network and cooperate with peers and colleagues stimulates debate, builds awareness, secures continuity of action and avoids us duplicating any efforts where our resources are scarce and collaboration is key. Our thematic approach is also designed to allow us all to learn from each other, and where less advanced regions in a given field can benefit from experience sharing with other areas in Europe and globally.

The Opening & Plenary Sessions are interpreted from English into five languages: French, Spanish, German, Italian and Russian. The Poster Committee has been impressed by the high quality of poster presentations submitted to the conference. The 200 posters that have been selected are showcased in the poster area located on Level -2 of the conference venue in The Cromdale Hall. A Patient Advocates Fellowship Programme has been made available to support the participation of up to 40 patients’ advocates.

Lastly, and by no means least, thanks to our host country for 2016, participants will enjoy ample opportunities to network and visit the vibrant and cultured city of Edinburgh.

Sincerely, ECRD 2016 Programme Committee Co-Chairs

The European Conference on Rare Diseases & Orphan Products is the unique platform/forum across all rare diseases, across all European countries, bringing together all stakeholders - patients’ representatives, academics, health care professionals, industry, payers, regulators and policy makers.

It is a biennial event, providing the state-of-the-art of the rare disease environment, monitoring and benchmarking initiatives. It covers research, development of new treatments, health care, social care, information, public health and support at European, national and regional levels.

It is synergistic with national and regional conferences, enhancing efforts of all stakeholders. There is no competition with them, but efforts are complementary, fully respecting initiatives of all.

MESSAGE FROM THE CO-CHAIRS

MOTTO OF THE EUROPEAN CONFERENCE ON RARE DISEASES & ORPHAN PRODUCTS (ECRD)

Alastair KentDirector, Genetic AllianceUK

Bruno SepodesChair, COMP, Professor University of LisbonPortugal

Wills Hughes-WilsonVice President External Affairs, Chief Patient Access Officer Sobi, Sweden

38th ECRD Conference I 26-28 May 2016 I 26-28 May 2016

PROGRAMME COMMITTEEKate BushbyProfessor of Neuromuscular Genetics, Newcastle University, UKDorica DanPresident, Romanian Pader Willi Association, RomaniaPascal GarelChief Executive, European Hospital and Healthcare Federation (HOPE), BelgiumAdam HeathfieldCo-Chair Task Force RDs & ODs of EFPIA-EuropaBio, Pfizer, UKHelena KääriäinenPresident ESHG, National Institute for Health and Welfare, FinlandKristina LarssonHead of Orphan Medicines, EMA, EUYann Le CamChief Executive Officer, EURORDIS, FranceJordi Llinares GarciaHead of Product Development Scientific Support Department, EMA, EUFlaminia MacchiaEUCOPE Member, Director EU Government Affairs & Public Policy,Vertex Pharmaceuticals, UKKay ParkinsonFounder, Alström Europe, UKVinciane PirardCo-Chair Task Force RDs & ODs of EFPIA-EuropaBio, Genzyme, NetherlandsElizabeth PorterfieldHead, Strategic Planning/Clinical Priorities, The Scottish Government, UKGayatri RaoDirector, FDA’s Office of Orphan Products Development (OOPD), USAAna RathDirector, Orphanet, FranceMiriam SchlangenHead of Coordinating Office of the National League (NAMSE), GermanyDomenica TaruscioDirector, ISTITUTO SUPERIORE DI SANTA (ISS), ItalyTill VoigtländerClinical Institute of Neurology, Medical University of Vienna, Austria

ORGANISING COMMITTEESharon AshtonSenior Event Manager, EURORDIS, UKSimona BellagambiUNIAMO, ItalyJill BonjeanResource Development Director, EURORDIS, FranceJuan Carrión TudelaPresident, FEDER, SpainNatalie FrankishDevelopment Officer- Scotland, Genetic Alliance UK, UKAnja HelmSenior Manager of Relations with Patient Organisations, EURORDIS, FranceLene JensenDirector, Rare Diseases Denmark, DenmarkTamara KohlerAssociate Director, Content Development, DIA Europe, Middle East & Africa, SwitzerlandHolger G. AdelmannSenior VP & Managing Director, DIA Europe, Middle East & Africa, SwitzerlandIrina MyasnikovaRussian Patient Union, RussiaPatrice RégnierFinance & Operations Director, EURORDIS, FranceRainer RiedlPresident, Pro Rare Austria, Austria

TABLE OF CONTENT

Message from Co-Chairs .................................................................2

Programme Committee and Organising Committee ..............3

Programme Overview ......................................................................4

General Information ..........................................................................4

Acknowledgment & Credits ............................................................5

Networking Events ............................................................................6

ECRD 2016 Programme at a Glance .............................................7

Tutorials ................................................................................................8

Opening Plenary & Closing Plenary Sessions .......................... 10

Themes ................................................................................................ 11

Sessions .............................................................................................. 13

Posters ................................................................................................ 21

Exhibiting Companies ................................................................... 26

Exhibit Hall Floor Plan ....................................................................27


Thursday, 26 May 2016

08.00 – 09.00 Registration opens for EURORDIS General Assembly (EURORDIS members only)

09.00 – 13.00 EURORDIS General Assembly (EURORDIS members only)

11.00 - 11.30 Coffee break

12.00 - 18.00 Registration open for ECRD 2016

13.00 - 14.00 Lunch (patient groups)

14.00 - 17.30 Pre-conference Tutorials

14.00 - 17.30 Patient advocates capacity-building workshops

18.00 – 19.00 Patient Groups Welcome Reception

Friday, 27 May 2016

08.00 – 18.00 Registration open

09:00 - 09:45 Opening Session

09:45 - 10:15 Coffee break, posters and exhibition

10:15 - 12:00 Plenary Session

12:00 - 13:00 Lunch and exhibition

13:00 - 14:00 Poster Session

13.00 - 14.00 Research networking session

14:00 - 15:30 Choose from 6 parallel sessions

15:30 - 16:30 Coffee break, posters and exhibition

16:30 - 18:00 Choose from 6 parallel sessions

18:00 – 19:00 Networking Reception in the exhibition hall

Saturday, 28 May 2016

08.30 - 14.00 Registration open

09:00 – 10.30 Choose from 6 parallel sessions

10:30 – 11:00 Coffee break, posters and exhibition

11:00 – 12:30 Choose from 6 parallel sessions

12:30 – 14:00 Lunch, posters and exhibition

13.00 - 14.00 Soap box lunch session

14:00 – 15:30 Choose from 6 parallel sessions

15.45 - 17.00 Closing Plenary

17:00 – 17:30 Informal farewell coffee

GENERAL INFORMATION

Information on Interpretation & Language for each Session

Pre-Conference workshops and tutorials

All pre-conference workshops and tutorials will be conducted in English only.

Opening & Plenary Sessions

The Opening & Plenary Session and Closing Plenary Session, taking place on the morning of Friday, 27 May and on the afternoon of Saturday, 28 May will be simultaneously interpreted from English into 5 languages: French, German, Italian, Russian and Spanish.

Other SessionsA selection of other sessions will be simultaneously translated from English into French and Russian. Please refer to the Programme for more specific details. All other sessions will be conducted in English only.

Registration Opening Times

The registration desks are located on the ground floor of the conference venue. A separate Speakers registration desk will be set-up and open during the following times:

Thursday, 26 May 12.00 – 18.00Friday, 27 May 08.00 – 18.00Saturday, 28 May 08.30 – 14.00

On-site Speaker Room (Speaker Preview)

The Speakers Room is located on the ground floor of the conference venue in the Lomond Foyer. On-site welcome staff will direct you.

POGRAMME OVERVIEW


With the support of

AFM-Téléthon

Health Programme of the European Union

Marketing Edinburgh

RD-ACTION

Visit Scotland

In partnership with

EUCOPE

EuropaBio

European Hospital and Healthcare Federation (HOPE)

European Medicines Agency

European Society for Human Genetics (ESHG)

FDA - Office of Orphan Products Development

Genetic Alliance UK

NHS - The National Institute for Health Research

Orphanet

The Scottish Government

Associate Partners

Association of the British Pharmaceutical Industry (ABPI)

BlackSwan Foundation

Canadian Organization for Rare Disorders (CORD)

Chinese Organization for Rare Disorders (CORD)

eRare

Ethical Medicines Industry Group (EMIG)

European Federation of Internal Medicines (EFIM)

Global Alliance for Genomics & Health

International Federation of Social Workers (IFSW Europe)

International Pharmaceutical Federation (FIP)

International Rare Diseases Research Consortium (IRDiRC)

Istituto Superiore di Sanità (ISS)

Institute of Genetic Medicine, University of Newcastle

Japan Patient Association - JPA/ASrid

National Organization for Rare Disorders (NORD)

National Center for Rare Diseases (CNMR)

Rare Cancers Europe

Rare Voices Australia

RE(ACT) Community

Russian Patients’ Union (RPU)

Social Platform

The Organization for Professionals in Regulatory Affairs (TOPRA)

UK BioIndustry Association (BIA)

Continuing Education

DIA meetings and trainings are generally approved by the Commission for Professional Development (CPD) of the Swiss Association of Pharmaceutical Professionals (SwAPP) and the Swiss Society of Pharmaceutical Medicine (SGPM). The conference will be honoured with 9 credits for pharmaceutical medicine.

DIA is an authorised training organisation accredited under the number 11 99 53383 75 to the Préfet of Ile-de-France.

CREDITS, SUPPORTS AND LEGAL INFORMATIONWe wish to thank the following institutions for their active collaboration

CONFERENCE ORGANISERThe 8th European Conference on Rare Diseases & Orphan Products (ECRD 2016) is organised by EURORDIS

CO-ORGANISED BYDIA Europe, Middle East & Africa

AKNOWLEDGMENTS AND CREDITS


Conference Venue

Edinburgh International Conference Centre (EICC)The Exchange, EdinburghEH3 8EE, Scotland, UKTel. +44 (0)131 300 3000Fax. +44 (0)131 300 3030www.eicc.co.uk

Conference Organiser

EURORDISPlateforme Maladies Rares96 rue Didot75014 Paris, FranceTel. +33 1 56 53 52 10Email: [email protected]

Co-Organiser

DIA Europe, Middle East & AfricaKuechengasse 164051 Basel, SwitzerlandTel. +41 61 225 51 51Fax. +41 61 225 51 52Email: [email protected]

NETWORKING EVENTS

PATIENT GROUPS WELCOME RECEPTION Thursday, 26 May 2016 | 18.00 – 19.00EICC, Edinburgh, Scotland, UK

A welcome reception will be held for registered patients and patients’ advocates on Thursday, 26 May 2016 from 18.00 to 19.00 in the Strathblane Hall at the ECRD 2016 conference venue (EICC, Edinburgh, Scotland, UK). Drinks and snacks will be served.

RESEARCH NETWORKING SESSIONFriday, 27 May 2016 | 13.00 - 14.00EICC, Edinburgh, Scotland, UK

After a short presentation of the current landscape and initiatives in research at the European level, this session is intended to be interactive to provide a peer-to-peer exchange and learning on the different opportunities, barriers, successes, challenges and tools that participants are aware of. Don’t forget your business cards! This session will take place in the Strathblane Hall.

NETWORKING RECEPTION & POSTER AWARD PRESENTATIONFriday, 27 May 2016 | 18.00 – 19.00EICC, Edinburgh, Scotland, UK

All registered participants are invited to attend this informal networking reception and poster awards presentation taking place from 18.00 to 19.00 in the Cromdale Hall at the ECRD 2016 conference venue.

SOAP BOX LUNCH SESSIONSaturday, 28 May 2016 | 13.00 – 14.00EICC, Edinburgh, Scotland, UK

Do you have an innovative strategy, approach, service, project or other initiative that could potentially be useful to other participants? Then you are invited to share it with the audience. This session is being held during lunch in the Fintry room and will be managed on a first-come first-serve basis. Interested parties are invited on-stage to present for a maximum of 5 minutes, without any visual support (no electronic slides). This session will give everybody a chance to voice their opinion on subjects they find inspirational and worthy of sharing.

FAREWELL COFFEESaturday, 28 May 2016 | 17.00 – 17.30EICC, Edinburgh, Scotland, UK

All registered participants are invited to attend this informal farewell coffee break taking place from 17.00 to 17.30 in the Cromdale Hall at the ECRD 2016 conference venue (EICC, Edinburgh, Scotland, UK).This will be the occasion to say goodbye to fellow participants before leaving Edinburgh or enjoying an extended stay in the city.

CONTACTS

#ECRD2016


Thursday, 26 May 2016

09:00-13 :00EURORDIS General

Assembly

14:00-17:30Patient AdvocatesCapacity Building

Workshops

14:00-17:30Pre-Conference

Tutorials

18:00-19:00Patient Groups

Welcome Reception

Friday, 27 May 201609:00-12:00 Opening & Plenary Session

13:00 - 14:00 Research networking session

Theme 1

Game Changers in Research

Theme 2

Game Changers in Diagnosis

Theme 3

Game Changers in Drug Development

Authorisation & Access

Theme 4

Game Changers in Care Provision

Theme 5

Game Changers in Social Policy

In Partnership with Patients

14:00-15:30

Session 0101/0201Breaking through

in Diagnosis

Session 0301Breaking down the walls from ideas to patients- Early access initiatives

Session 0401The establishment of the ERN model for rare diseases

Session 0501Patients becoming

people: Integrating the social perspective into

health policy

Session 1Innovative devices,

tools & communication methods that could

change your life!

16:30-18:00

Session 0102/0202Patients empowered research & diagnosis

Session 0302Patients as game

changers leading us on the path

Session 0402How to structure

Healthcare for better health outcomes

Session 0502 Social innovation for better and integrated care for rare diseases

Session 2Clinical trials of the future

Saturday, 28 May 2016

Theme 1

Game Changers in Research

Theme 2

Game Changers in Diagnosis

Theme 3

Game Changers in Drug Development,

Authorisation & Access

Theme 4

Game Changers in Care Provision

Theme 06

Game Changers in Global Society

In Partnership with Patients

09:00-10:30

Session 0103Boosting rare diseases

in a global collaborative research environment

Session 0203Will extended

Preconception, Prenatal & Newborn Screening

make clinical diagnostics redundant

Session 0303Another brick off

the wall: Joint HTA & Scientific Advice

Session 0403Health Outcomes

Session 0601The impact of social

media on globalization: new knowledge generation and

advocacy

Session 3Experiences, opinions and prospects for patients in

research

11:00-12:30

Session 0104Launch Platforms

Session 0204Diagnostic tools for all rare diseases by 2020… but what about all rare

disease patients?

Session 0304The last cornerstone

Session 0404Interoperability is a state

of mind

Session 0602 Rare Diseases going

global

Session 4Innovative ‘game

changing’ collaborations between industry and patient organisations

12:00 - 13:00 Soap box lunch session

14:00-15:30

Session 0105Sustainable research

and affordable therapies to maintain our orbit

Session 0205Patients need accurate

diagnosis

Session 0305Walking the path…what does the view look like and where is the path

leading us?

Session 0405Will I benefit from ERN

in reality?

Session 0603Turning rare diseases into an international public health priority

Session 5Building capacities of

patient advocates

15:45-17:00 Closing Plenary Session: Game Changers in Rare Diseases: Its your move!

PROGRAMME AT A GLANCE


Tutorial 1 | Ochil 2Thursday, 26 May 2016 14:00 - 17:30

EMA REGULATORY ROUTES SUPPORTING ORPHAN DRUG DEVELOPMENT

Jordi Llinares Garcia, Head of Product Development Scientifi c Support Department, European Medicines Agency, EU

Kristina Larsson, Head of Orphan Medicines, European Medicines Agency, EU

The following topics will be covered in this tutorial:

• Orphan designation and maintenance at MA procedure• Incentives• Involvement of patients and external experts• PRIME and early access tools for orphans

Learning Objectives

At the conclusion of this tutorial, participants will be able to:• Provide an overview of orphan designation process • Discuss incentives, especially protocol assistance and its impact on

development and authorisation• Analyse the requirements for maintenance of orphan designation at the

time of marketing authorisation• Introduce and discuss how new regulatory pathways can support drug

development in rare diseases

Target Audience

• Developers of drugs in the fi eld of rare diseases• Basic / intermediate level


HEALTH TECHNOLOGY ASSESSMENT (HTA) - HOW TO PREPARE AND ENGAGE EARLY FOR RARE DISEASES

Christian Hill, Managing Director MAP BioPharma Limited

Mark Harries, Chief Operating Offi cer, MAP BioPharma Limited

Market Access for BioPharmaceutical innovation is often described as confusing and full of risk for the innovative companies trying to bring new products to patients. However, in many cases, this is more perception than reality when we consider the risks and opportunities involved. In this tutorial, we help you to understand how companies can engage with HTA and regulatory organisations earlier than has usually been the case, and what are the potential benefi ts and risks of such an approach

Learning Objectives

At the end of the tutorial, participants will be able to:• Describe how to engage with Health Technology Assessment (HTA)

organisations earlier.• Provide an overview of individual countries and for the European Union

(EU) as a whole• Understand the rapidly evolving regulatory process including scientifi c

advice.• Look at the process as a whole rather than as several elements in isolation.

Target Audience

• Market Access or Regulatory Directors / Managers with responsibility for HTA preparedness and engagement

• General managers and business leaders considering early and innovative engagement with regulators and HTA organisations

• Patient groups interested in hearing how innovative companies plan for early and innovative engagement with HTA

SAVE THE

DATEEURORDIS Membership Meeting 2017

18 - 20 May 2017Danubius Hotel HELIA Conference Hotel

Budapest, Hungary

BUDAPEST, HUNGARY

TUTORIALS


SAVE THE

DATEEURORDIS Membership Meeting 2018

9th European Conference on Rare Diseases & Orphan Products

10 - 12 May 2018Messe Wien Exhibition & Congress Center

Vienna, AustriaVIENNA, AUSTRIA

TUTORIALS


HOW COULD THE RD-CONNECT PLATFORM SUPPORT RARE DISEASE EUROPEAN REFERENCE NETWORKS?

Hanns Lochmüller, Professor of Experimental Myology, Newcastle University John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, United KingdomInternational Centre for Life

Pauline McCormack, Senior Research Associate, PEALS (Policy, Ethics and Life Sciences), Newcastle University, United Kingdom

Sergi Beltran, Bioinformatics Analysis Group Leader & Data Analysis Team Leader, Centro Nacional de Análisis Genómico, Spain

The fi rst European Reference Networks will be operational by late 2016/early 2017. Although the primary purpose of an ERN is to facilitate access to highly specialised healthcare in domains requiring a particular concentration of expertise, research will be a cornerstone of each network – ERNs and their constituent Healthcare Provider members need to demonstrate research excellence. The RD-Connect platform has been designed to support the linking of RD patient data from databases, registries, biobanks and bioinformatics, to support research and increase the potential of precious RD data. The tutorial will demonstrate how the RD-Connect platform could support ERNs in conducting their research activities. It will also address the most relevant ethical, legal and social issues related to sharing patient data in this way.

Learning Objectives

This tutorial will demonstrate the scope and current activities of the RD-Connect platform supporting rare disease research.

Participants will be able to learn how contributing data to the platform can support patient diagnosis. They will also receive an update on the most relevant ethical, legal and social issues associated with the movement of patient data within this environment.

Actions to ensure compatibility of ERNs with the resources of the RD-Connect platform will be explored.

Target Audience

The Target audience will be prospective coordinators of RD ERNs, or else healthcare providers joining an ERN proposal. The tutorial should also be of interest to patients, researchers and scientists wishing to learn how data can be deposited securely and travels in the RD-Connect framework and how it can be used to support research and care through the web interface of the RD-Connect genomics platform.


OPENING SESSION

PLENARY SESSION & CLOSING PLENARY

FRIDAY, 27 MAY 2016 10.15 – 12.00 I Pentland & Sidlaw

Setting the scene for the conference

Wills Hughes Wilson, Vice President External Affairs, Chief Patient Access Officer, SOBI, Sweden

Keynote Addresses by:

Tom Shakespeare, Senior Lecturer, Norwich Medical School, UKIgor Ban, rare cancer survivor, RareConnect Web Content Manager, Serbia

Young patient advocates panel discussion

Chaired by: Bruno Sepodes, Chair COMP, Professor, University of Lisbon, Portugal

Panellists:- Igor Ban, rare cancer survior, RareConnect Web Content Manager, EURORDIS, Serbia

- Eszter Becskeházi, Hungary

- Synne Lerhol, Secretary General, The Norwegian Association for Youth with Disabilities, Norway

- Emma Rooney, Gaucher disease patient advocate & storyteller, Canada / Germany

- Irina Rotariu, Member of ScotCRN Young Person’s Advisory Group, UK

Unless otherwise disclosed, EURORDIS acknowledges that the statements made by speakers are their own opinion and not necessarily that of the organisation they represent, or that of EURORDIS. Speakers and agenda are subject to change without notice. Recording of any EURORDIS information in any type of media is prohibited without prior written consent from EURORDIS.

SATURDAY, 28 MAY 2016 15.45 – 17.00 Pentland & Sidlaw

Closing Plenary Session: Game Changers in Rare Diseases: Its your move!

Session Chair: Avril Daly, Vice-President EURORDIS, Chair, Genetic and Rare Disorders Organisation (GRDO) Ireland, CEO, Retina International, Ireland

Key take-home messages & panel discussion:

Theme 1: Hugh Dawkins, Director, Office of Population Health Genomics, Department of Health Western Australia, Australia

Theme 2: Alastair Kent, Director, Genetic Alliance UK, UK

Theme 3: Ri de Ridder, Director General, RIZIV-INAMI, Belgium, Ana Palma, Global HTA & Patient Access Lead, Sobi, Belgium and Bruno Sepodes, Chair COMP, Professor, University of Lisbon, Portugal

Theme 4: Matt Johnson, Healthcare and Research Director, EURORDIS, Belgium and Till Voigtländer, Clinical Institute of Neurology, Medical University of Vienna, Austria

Theme 5: Dorica Dan, Board of Officers, Board of Directors EURORDIS, President, Romanian Prader Willi Association, Romania

Theme 6: Durhane Wong Rieger, President, CORD, Canada

The Opening and Plenary Sessions will be simultaneously interpreted from English into 5 languages:

French German Italian Russian SpanishFRIDAY, 27 MAY2016

09:00 - 09:45 I Pentland & Sidlaw

Welcome address and opening remarks by the co-organisers:

• EURORDIS - President, Terkel Andersen, Denmark• DIA - Tamara Kohler, Associate Director Content & Development, DIA EMEA, Switzerland

Keynote Addresses by: Cabinet Secretary for Health, Wellbeing and Sport, Scotland, UKAlastair Kent, Director, Genetic Alliance UK, UKXavier Prats Monné, Director General of the Directorate-General for Health & Food Safety, European Commission, EU

09.45 -10.15 Coffee break, posters and exhibition


THEMES

THEME 1 | GAME CHANGERS IN RESEARCHKate Bushby, Professor of Neuromuscular Genetics, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, International Centre for Life, Newcastle Upon Tyne Hospital, UKHugh Dawkins, Director, Office of Population Health Genomics, Department of Health Western Australia, Australia

There has been a tremendous effort to promote and develop research in rare diseases, enshrined in the aims of IRDiRC. With an underlying genetic cause for the majority of rare diseases, a major game changer in research continues to be the development in technologies for sequencing and bioinformatics. The schema of moving from gene identification and diagnostics to therapy development is currently playing out in many rare diseases.

Within the sessions of the theme, we will address the move from research to diagnosis of these new technologies and consider the patient at the centre of new developments. We will develop discussion around the interplay between public and private funding streams for rare diseases research, and consider some of the breakthroughs which have impacted on patient care, some of which have been enabled by innovative funding models. Finally we will revisit the end game of rare diseases research in the delivery of new therapies to patients and how this can be enabled in a sustainable manner.

THEME 2 | GAME CHANGERS IN DIAGNOSISAlastair Kent, Director, Genetic Alliance UK, UK Milan Macek, Professor of Medical and Molecular Genetics, Charles University Prague, Czech RepublicGert Matthijs, Head of the Laboratory for Molecular Diagnostics at the Center for Human Genetics in Leuven, Belgium

For patients and family members and carers, getting a diagnosis is fundamental to their understanding of the situation in which they find themselves. A diagnosis provides a route to answering the questions that rare diseases raise – What has happened to me/my child? What is going to happen? Is there anything that can be done? Will it happen again? Who can help me? – and many more like these. Without a diagnosis families, and the clinicians who support them, are groping in the dark, possibly missing out on interventions that might improve the situation for the affected patient and unable to bring in others potentially able to help. Without a diagnosis the possibilities for research and development are limited, and the development of therapies rarely gets off the ground, leaving potentially avoidable harms to occur, and without a diagnosis the provision of truly integrated, multi-disciplinary and inter-institutional care seems virtually impossible to achieve.

Getting a prompt, accurate diagnosis has, for many, been a struggle. Even today many children with rare diseases remain undiagnosed for months or years, and some never receive a diagnosis. This situation is, or ought to be, changing rapidly thanks to progress in research, but much remains to be done before we can arrive at a situation where we can confidently expect that every rare disease family will speedily find themselves in a situation where their doctor is able to say” I know what this is, and I know what to do about it”.

In part, filling the gap between patient’s and family’s legitimate expectations and clinical realities will be possible through research, and the first two sessions in this theme are joint ones with theme 1 “Game Changers in Research”. Thereafter the themes divide and pursue separate courses. Those who choose this theme will be able to participate in lively discussions with a wide range of experts (on the platform and in the room) as we explore the scientific, clinical, societal, ethical and practical questions that will need to be addressed for patients and families to be able to appreciate the situation in which they find themselves and gain and retain a sense of control over their lives to the fullest extent possible.

The technological capabilities for diagnosis and other diagnostic tools are developing at a rapid pace, however, experience of the consequences of implementing these developments is still very low. This theme will allow you to participate in the debate with all stakeholders present: patients, health care professionals and regulators on the best ways of adopting these new developments.

THEME 3 | GAME CHANGERS IN DRUG DEVELOPMENT, AUTHORISATION AND ACCESS Jordi Llinares Garcia, Head of Product Development Scientific Support, European Medicines Agency, EU Lesley Greene, Vice-Chair COMP, Vice-President CLIMB, EURORDIS Patient Representative, UKRi de Ridder, Director General, RIZIV-INAMI, BelgiumAna Palma, Global HTA & Patient Access Lead, Sobi, Belgium

Drug development, authorisation and access is no longer a linear path, but more of a cycle of evidence generation and review. Over the course of the past 15 years, since the EU Regulation on Orphan Medicinal Products and its regulatory framework have been created, opportunities for collaboration have been established at various different points on this circle. Some of these are already working well, with a solid body of experience behind them. Others are in earlier phases of testing and development. In order to “change the game” in rare disease therapy, development, authorisation and access, where are the moments in the circle that need our attention most? And is it possible that there are some areas where there is a “blockage”? Building on the collaborative approaches that have delivered the progress to date in the field of rare diseases, this Theme will aim to diagnose what needs our attention most and how we can smooth the path from research through to real treatments with real access for real patients.


THEME 4 | GAME CHANGERS IN CARE PROVISIONMatt Johnson, Healthcare and Research Director, EURORDIS, Belgium Birthe Holm, EURORDIS Board of Directors, President, Rare Diseases Denmark, Denmark Till Voigtländer, Clinical Institute of Neurology, Medical University of Vienna, Austria

Living in the ‘connected generation’, it’s surprising to see that expertise in the rare disease field remains isolated. A wealth of knowledge and experience sit in pockets within Europe, locally accessible by only a scattering of people living with a rare disease. Is the game changer in healthcare going to be European Reference Networks, whose objective will be to connect the pockets of experts and highly specialised services, so that the whole rare disease community can benefit? As we approach the first call for European Reference Networks applications in spring 2016, do we all share the same concept of what an European Reference Network is in reality? How will we breathe life into European Reference Networks, making these networks meet all our expectations?Each of the sessions in this theme will explore our ambitions to refine a shared understanding of what the rare disease community really needs these networks to look like in reality. Drawing on expertise from across Europe, we will share case studies to show what the true potential is in connecting isolated experts and sharing knowledge and information. We will see how care will change in your local hospitals from the creation of European Reference Networks and mapping the evolution of practices and treatments through a common currency that enables experts to share knowledge and practices, driving improvements for all. Building greater interoperability that enables a system to talk to each other, communicate within countries and between countries. Exploring how access to improved quality of diagnosis, treatment and healthcare can be a reality for all, not a luxury for the few.

THEME 5 | GAME CHANGERS IN SOCIAL POLICY

Dorica Dan, Board of Officers, Board of Directors EURORDIS, President, Romanian Prader Willi Association, RomaniaMaria Montefusco, Project Manager at the Council of Nordic Cooperation on Disability, Nordic Centre for Welfare and Social Issues, Sweden

People living with a rare disease and their families face significant social and daily life challenges which affect their autonomy, their dignity and their fundamental human rights. Integrated care provision in coordination between medical, social and local support services, via multidisciplinary care pathways and innovative care solutions, is a crucial game changer to tackle the unmet social needs of people living with rare diseases. Taking as point of departure the recommendations of the European Commission Expert Group on Rare Diseases to Support the Integration of Rare Diseases into Social Services and Social Policy, this theme will look both into the current policy scenario as well as into innovative care solutions which are being experimented throughout Europe.

THEME 6 | GAME CHANGERS IN GLOBAL SOCIETY

Durhane Wong Rieger, President, CORD, CanadaYann Le Cam, Chief Executive Officer, EURORDIS, France

Theme 6 drives home the message that rare diseases are truly global. By connecting globally, we can accelerate advances in knowledge, public awareness, and drug discovery and development but most important we can connect patients to professionals, the public, and each other. In the first session, we bring together experts with tips and tools on using different forms of social media to generate knowledge and do advocacy with equally powerful examples from the patient community.

Our second session brings leaders from various global enterprises involved in research, manufacturing, knowledge exchange, policy, and patient networking in a panel discussion on how greater synergy across all spheres can improve orphan drug development and approval.

The final session opens discussion on an issue with global impact: rare diseases as an international public health priority. What can we learn from leading public health experts and successful international associations and federations?

THEMES


SESSIONS

Friday, 27th May 2016 | 14.00 – 15.30

Session 0101 & 0201 | Fintry Friday, 27 May 2016, 14.00 - 15.30

BREAKING THROUGH IN DIAGNOSIS

Interpretation from English to RU & FR

Session Chair:Gert Matthijs, Laboratory for Molecular Diagnosis, Center for Human Genetics, UZ Leuven, Belgium

Rapid progress with sequencing technologies such as next generation sequencing hold out the prospect of great progress. Other developments, such as the development of computer assisted phenotype recognition, and evidence based service planning are opening up exciting prospects for patients and families, as well as for clinicians. However, at present the experience of implementing all of this growing knowledge is still meagre. This session will explore some of these, drawing on examples from around the globe.

Moving Whole Scale Genomic Sequencing into Clinical Practice in EnglandMark Caulfield, Chief Scientist, Genomics England, UK

You can’t do it Without Me PhenotypingGareth Baynam, Clinical Geneticist, King Edward Memorial Hospital, Australia

Notes from a Small Country: Experience Establishing a Genetic Service in Slovenia Borut Peterlin, Division of Medical Genetics, Ljubljana University Medical Centre, Ljubljana, Slovenia

DebateMilan Macek, Professor of Medical and Molecular Genetics, Charles University Prague, Czech-RepublicOlaf Reiss, Head of Department of Medical Genetics, University Tuebingen, GermanyBirthe Holm, President, Rare Diseases Denmark, Denmark

Session 0301 | TintoFriday, 27 May, 14.00-15.30

BREAKING DOWN THE WALLS FROM IDEAS TO PATIENTS – EARLY ACCESS INITIATIVES

Session Co-Chairs:Jordi Llinares Garcia, Head of Product Development Scientific Support, EMA, EUBruno Sepodes Chair COMP, Professor of Pharmacology and Pharmacotherapy, University of Lisbon, Portugal

There are many steps on the path of getting effective rare disease therapies available to patients. This session aims at setting the scene for the pathway – “the walk”, which the audience will be invited to take during Theme 3, with the objective of identifying opportunities at each stage of this walk to break down walls between each step. Along The Walk, various “moments” will be described, showcased and debated: the Regulatory, the HTA, and the Payer, following the entire therapy life-cycle from ideas to patients; and which walls need to be broken down, brick by brick, from ideas to patients. This session

will also zoom in on the first “moment” – the Regulatory aspects– with a particular focus on early access initiatives.

Introduction: What We are Trying to Achieve - Describing Whole Scene (End-to-End Approach / the Path)Bruno Sepodes, Chair COMP, Professor of Pharmacology and Pharmacotherapy, University of Lisbon, Portugal

Early Access Initiatives: EMA’s “Pathfinder” (PRIME) Initiative, Accelerated Access, Adaptive Pathways, Qualification of new Methodologies Fostering Development to Bring These Ideas to PatientsJordi Llinares Garcia, Head of Product Development Scientific Support Department, EMA, EU

Panel Discussion:Gayatri Rao, Director FDA’s Office of Orphan Products Development (OOPD), USAKristina Larsson, Head of Orphan Medicines, European Medicines Agency, EUJennifer Dittman, Director, Regulatory Affairs, Bluebird Bio, USA

Session 0401 | Sidlaw Friday, 27 May 2016, 14.00 – 15.30

THE ESTABLISHMENT OF THE ERN MODEL FOR RARE DISEASESInterpretation from English to RU & FR

Session Chair:Matt Johnson, Healthcare and Research Director, EURORDIS, Belgium

As ERN applications are being finalised in early Summer, ready for submission to the European Commission for independent assessment, do we share a common vision and expectations of European Reference Networks? Has there been a smooth launch to the first call for ERNs and how are applications shaping up ready for assessment? In this session you will hear first-hand the experiences of those involved in the first call from a strategic perspective to an operational perspective. We will see if there is a divergence or convergence of views between the clinical community, patient community, and industry sector and from the Board of Member States and European Commission.

From Concept to Reality... Our State of Readiness Enrique Terol, Policy Officer, Directorate General for Health and Food Safety, European Commission, EU

A Model ApplicationRuth Ladenstein, President of Europe’s Paediatric Oncology Society, Austria

Our Strategy for SuccessTill Voigtländer, Co-chair Board of Member States, Clinical Institute of Neurology, Medical University of Vienna, Austria

Structured Debate: European Reference Networks: The Game Changer in Healthcare?Panellists: Avril Daly, CEO, Retina International, IrelandSamantha Parker, Chief Patient Affairs Health Policies Officer, Lysogene, France


Friday, 27th May 2016 | 16.30 – 18.00

Session 0102 & 0202 | Fintry Friday, 27th May 2016, 16.30 -18.00

PATIENTS EMPOWERED RESEARCH & DIAGNOSISInterpretation from English to RU & FR

Session Chair:David Fitzpatrick, Clinical Geneticist, Group Leader MRC, DDD, Scotland, UK

Patient engagement in research and development for RD has become a strong theme. We will learn from projects which have driven diagnostic advances with concrete examples of patient benefit and where scientific developments have been taken into the policy arena. Raised expectations bring their own risks, and we will listen to the perspective of the patient who remains undiagnosed. Examples of patient organisation driven research will be developed as part of the panel discussion. This session should provide a clear view on the value of the partnership of patients and academia in research and how this can spearhead progress and promote the adoption of game changing ideas.

The New Role of Medical Genetics in Clinical GuidingOlaf Riess, Head of Department of Medical Genetics, University Tuebingen, Germany

When the Undiagnosed Remains Undiagnosed… What do We Want When There is no Answer?Kay Parkinson, Founder, Alström Europe, UK

Best Practice Example: Bringing Together Policy, People and ScienceDoug Turnbull, Director, Wellcome Trust Centre for Mitochondrial Research, UK

Structured DebateLauren Roberts, SWAN (Syndromes without a name), National Coordinator, Genetic Alliance UK

Session 0302 | Tinto Friday, 27th May 2016, 16.30-18.00

PATIENTS AS GAME CHANGERS LEADING US ON THE PATH

Session Co-Chairs:Isabelle Moulon, Head of patients and healthcare professionals department, EMA, EULesley Greene, Vice-Chair COMP, Vice-President CLIMB, EURORDIS Patient Representative, UK

Before moving further on The Walk of a rare disease therapy in its development from ideas to patient availability, this session aims at showcasing how patients are already proactively taking action to address their challenges in their own disease or condition, covering different elements along the various “Moments” of The Walk and are already being game changers today. Patient representatives will demonstrate, via their engagement and leadership in the Regulatory, HTA and Payer “moments”, how everyone can effectively play a role in breaking the walls between steps on the pathway between ideas and patients. Using practical examples, the objective is to identify transferable skills and experience that can inspire collaborative approaches along the development pathway.

Session 0501 | Moorfoot Friday, 27th May 2016, 14.00 – 15.30

PATIENTS BECOMING PEOPLE: INTEGRATING THE SOCIAL PERSPECTIVE INTO HEALTH POLICY

Session Chair:Hans Winberg, Secretary General, The Foundation Leading Healthcare, Sweden

The Commission Expert Group on Rare Diseases has just adopted a set of recommendations aimed at advising Member States and the European Commission on issues that should be considered when organising the holistic care of RD patients within national health and social care systems. Health services have a key role to play in supporting the incorporation of rare disease specifies into mainstream social and support services, from a holistic and person-centred approach and a human rights perspective. This session focuses on empowering health services to be able to undertake this role.

New European Recommendations Support the Incorporation of Rare Diseases into Social Policies and ServicesJaroslaw Waligora, Policy Officer, Directorate General for Health and Food Safety – Programme Management and Diseases, European Commission, EU

Health Services Facilitating Multidisciplinary Care Provision: Experiences and Challenges of Valle Hebron’s Rare Disease UnitEduardo Tizzano, Director of the Clinical and Molecular Genetics, Rare Diseases Unit, Hospital Universitari Valle Hebron, Valle Hebron Institute of Research (VHIR), Barcelona, Spain

Health Services Facilitating Multidisciplinary Care Provision: Inspiring Experiences Outside of the Rare Disease Community Magda Rosenmöller, Principal Investigator, project INTEGRATE, Spain

The Personal, Youth, Policy and Disability/Complex Needs PerspectiveSynne Lerhol, Secretary General, Norwegian Association for Youth with Disabilities, Norway

In Partnership with Patients Session 1 | KilsythFriday, 27th May 2016, 14.00 – 15.30

INNOVATIVE DEVICES, TOOLS & COMMUNICATION METHODS THAT COULD CHANGE YOUR LIFE!

Session Chair:Simona Bellagambi, EURORDIS Board Member, UNIAMO, Italy Françoise Salama, EURORDIS Board Member, AFM, France

Speaker: Erin Sheldon, AAC Communication, Canada

Speaker to be named

Carrousel of Devices, Tools and Communication Methods:

- MaketoCare Contest, Filippo Cipriani, Genzyme, Italy - UltraCane, Julie Davies, UK- Web-Radr App, Nabarun Dasgupta, Epidemico, USA - ViaOpta App, Mohanad Fors, Novartis, Switzerland

15.30 - 16.30 COFFEE BREAK, POSTERS AND EXHIBITION

SESSIONS


What is the Role of Patients in This Life Cycle?Isabelle Moulon, Head of patients and healthcare professionals department, EMA, EU

Overview of Pilots of CHMP for Patients and Vision for the FutureFrançois Houyez, Treatment Information and Access Director, Health Policy Advisor, EURORDIS, France

Panel Discussion:Patients as Game Changers- Beyond Regulatory, Where are Patients Leading the way in Development and Availability of Treatment?Oliver Timis, CEO, AKU Society, UK Karen Aiach, Founder and CEO, Lysogene, France Amanda Bok, CEO, European Haemophilia Consortium, Belgium

Session 0402 | SidlawFriday, 27th May 2016, 16.30 – 18.00

HOW TO STRUCTURE HEALTHCARE FOR BETTER HEALTH OUTCOMESInterpretation from English to RU & FR

Session Chair:Maurizio Scarpa, Clinical Lead for Rare Metabolic Diseases, Director of the Centre for Rare Diseases, Helios Dr. Horst Schmidt Clinic, Germany

European Reference Networks will be multidisciplinary clinical communities that enable the free movement of expertise and knowledge. Will there be an evolution in care, in the way care is organised and delivered, with the forming of a new connected clinical generation? How will the patient journey change? This session will draw out a blue-print of how care could be delivered under the first ERNs, outlining the potential services they will deliver and showing the impact of experts that have networked / connected the experts and are sharing information.

What Would an Ideal ERN Look Like? Maurizio Scarpa, Clinical Lead for Rare Metabolic Diseases, Director of the Centre for Rare Diseases, Helios Dr. Horst Schmidt Clinic, Germany

Impact Case Studies:

Standards of Care for Rare Diseases in the NetherlandsAnne Speijer, Coordinator Quality of Care, VSOP, the Netherlands

DNA of Diagnostics: Research Paving the way to Accurate and new DiagnosisHanns Lochmuller, Professor of Experimental Myology, Newcastle University, UK

Diagnostic Odyssey: A Rough Ride or a Rough GuideLuca Sangiori, Head Medical Genetics and Rare Orthopaedic DiseasesRizzoli Orthopaedic Institute, Italy

Session 0502 | Morfoot Friday, 27th May 2016, 16.30 – 18.00

SOCIAL INNOVATION FOR BETTER AND INTEGRATED CARE FOR RARE DISEASES

Session Chair:Anette Scoppetta, Head of Work, Wealth and Welfare, Deputy Director, European Centre for Social Welfare Policy and Research, Austria

Social innovations, defined as novel or more effective practices that prove capable to tackle societal issues such as the demographic challenges of an ageing population, health and well-being, are required more than ever before. The session aims at presenting innovative care solutions, services and pathways for the social inclusion of people living with a rare disease, and at discussing latest challenges and obstacles in implementing those innovative integrated care models.

Taking Integrated Care Forward: Experiences from Canada to Inspire Service Provision for People Living with a Rare Disease in EuropeRéjean Hébert, Institute of Aging, Québec, Canada

Volunteer Navigators Support and Empower People Living with a Rare Disease in DenmarkLene Jensen, Rare Diseases Denmark, Denmark

Resource Centres for Rare Diseases as Key Facilitators for Integrated Care Provision Anders Olauson, Founder and Director, Agrenska, Sweden

Taking Integrated Care Forward: Convincing Key Decision Makers to Change the Environment in which Health and Social Services are Provided in ScotlandGregor Smith, Deputy Chief Medical Officer, The Scottish Government, Scotland, UK

In Partnership with Patients Session 2 | Kilsyth Friday, 27th May 2016, 16.30 – 18.00

CLINICAL TRIALS OF THE FUTURE

Session Chair: Josep Torrent-Farnell, Professor of Clinical Pharmacology and Therapeutics, Autonomous University of Barcelona, Spain

Statistical Approaches on Clinical Trials in Small PopulationsSimon Day, Director, Clinical Trials Consulting & Training Limited, UK

ASTERIX ProjectHanneke van der Lee, Clinical Epidemiologist, Academic Medical Center in Amsterdam, Netherlands

Speaker to be named

Panel Discussion:Lode Dewulf, Chief Patient Affairs Officer, UCB, Belgium

18:00 - 19.00 NETWORKING RECEPTION IN THE EXHIBIT HALL

SESSIONS


Saturday, 28th May 2016 | 09.00 – 10.30

Session 0103 | MoorfootSaturday, 28th May 2016, 09.00 – 10.30

BOOSTING RARE DISEASES IN A GLOBAL COLLABORATIVE RESEARCH ENVIRONMENT

Session Chair:Paul Lasko, Scientific Director, CIHR Institute of Genetics, Canada, Former Chair IRDiRC

There have been several large EU and international initiatives in Rare Disease research at the political and public funding level. With discussion led by the immediate past chair of IRDiRC and chairs of the scientific committees, representatives from the EU and NIH will present their vision for sustainable Rare Disease research funding streams, including the collaborative infrastructures which support Rare Disease research and development. The session aims to demonstrate the game changing initiatives which have driven Rare Disease research and model the potential sustainability of these developments.

Horizon 2020: EC Initiatives in Relation to Rare Diseases (Recommendations & Decisions)Iiro Eerola, Scientific / Technical Project Officer, Directorate General for Health and Food Safety, European Commission, Belgium

Addressing the Barriers / Breaking Down Barriers From Technological Advances to Improving the Health of People Living with Genetic ConditionsPetra Kaufmann, Director, Office of Rare Disease Research, NCATS (National Centre for Advancing Translational Sciences), USA

Speaker to be named

Chaired discussion including speakers and Yann Le Cam, Chief Executive Officer, EURORDIS, France and Hanns Lochmüller, Chair of Experimental Myology Deputy Director, Institute of Genetic Medicine, Newcastle University, UK

Session 0203 | FintrySaturday, 28th May, 09.00-10.30

WILL EXTENDED PRECONCEPTION, PRENATAL AND NBS MAKE CLINICAL DIAGNOSTICS REDUNDANT?Interpretation from English to RU & FR

Session Co-Chairs:Domenica Taruscio, Director, Istituto Superiore di Sanità (ISS), ItalyKay Parkinson, Founder, Alström Europe, UK

Should we just sequence everybody’s whole genome at birth, and give them the information so they can make decisions about not only their own health and the diseases they will develop, but also as to whether to have children and if so, with whom? This will be an interactive discussion with inputs from patients, clinical geneticists, lab scientists, screening professionals and health service planners (on the podium and in the room) as we consider the potential impact of greatly extended screening programmes.

Prevention of Rare Genetic Disease in Israel by Preconception Screening, Prenatal Diagnosis and Preimplantation Genetic Diagnosis Yuval Yaron, Ltd President, Virtual Academy of Genetics, Israel

Ethics and Governance in Research & Early Diagnosis: The Role of Patients within Medical Research Harriet Teare, Direct Project Officer, HELEX, University of Oxford, UK

Faroe Island ProjectBogi Eliasen, Professor and Degree Programme Director, University of the Faroe Islands, Denmark

Session 0303 | Tinto Saturday, 28th May 2016, 09.00-10.30

ANOTHER BRICK OFF THE WALL: JOINT HTA AND SCIENTIFIC ADVICE

Session Chair: Thorsten Vetter, Scientific Administrator, European Medicines Agency, EU

Experiences of parallel EMA-HTA Scientific Advice have been very positive, but actual and practical impact on access and availability to patients – particularly for rare disease treatments and orphan medicinal products – remains unclear. How can we build on where we are now, to broaden the impact and accelerate practical benefits in terms of access to treatments? What are the next steps to make parallel scientific advice a real game-changer for orphan medicinal product development and access across the EU? Moving along The Walk to the next “moment”, this session will focus on showcasing those HTA engagement initiatives from which we can learn the most; and aims at discussing how these various scattered experiences and pilots can be moved into real life, in a way that will create meaningful outcomes for patients.

SEED: The Experiences in Rare Diseases so far Elangovan Gajraj, Senior Technical Adviser, Scientific Advice Programme, NICE, UK

Experience with Early Dialogue and Future OutlookFrançois Meyer, Advisor to the President and Director of International Affairs, HAS, France

For and Against DiscussionDiscussion Chair: Tony Hoos, Head of Medical for Europe, Amgen, Switzerland

Session 0403 | SidlawSaturday, 28th May 2016, 09.00 – 10.30

HEALTH OUTCOMESInterpretation from English to RU & FR

Session Chair:Edmund Jessop, Medical Advisor, NHS England, UK

At the heart of European Reference Networks is a culture of learning, where clinicians share knowledge and practice, celebrating the variation in practice and only standardising diagnosis, care and treatment where there is a clear and proven improvement in evidence and ultimately outcomes for patients. Health outcomes are the common currency used by experts to drive forward improvements of care, but is the road ahead filled with successes or

SESSIONS


disappointments, what outcomes really matter for patients and how do we measure the health outcomes of untreatable diseases? This session should provide a clear view on the value and critical role health outcomes play in shaping the evolution of care and practice.

10 Years of Successes and Disappointments: Evolution of PracticeCarla Hollak, Professor of Inherited Metabolic Diseases, The Academic Medical Centre in Amsterdam, Netherlands

Outcomes That Really Matter for PatientsTerkel Andersen, President, EURORDIS, Denmark Untreatable Disease Outcomes Helmut Hintner, Chairman of the Department of Dermatology, General Hospital Salzburg, Austria

Session 0601 | Pentland Saturday, 28th May 2016, 09.00 – 10.30

THE IMPACT OF SOCIAL MEDIA ON GLOBALISATION: NEW KNOWLEDGE GENERATION AND ADVOCACY

Session Chair: Martin Godfrey, Managing Director, Health & Wellness, 3 MONKEYS/ZENO, UK

The use of internet technologies for the purposes of advocacy and patient engagement continues to mature. This session provides an opportunity to see first-hand projects which showcase the innovative use of social media in combination with advanced computational technologies which are impacting the rare disease community. Whether it is the design of new care protocols, the use of big-data in the detection of side-effects or patient-driven campaigns for access to medicines the evolution and use of the internet continues to be a catalyst for ground-breaking change. Designing two Rare Disease Nurse Posts Using Social Media EngagementLarissa Kerecuk, Rare Disease Lead, Birmingham Children’s Hospital, UK

BeHEARD (Helping to Empower and Accelerate Research Discoveries), Global Rare Disease Science CompetitionArvin Gouw, Director, BeHEARD, Rare Genomics Institute, USA

Listening to the Patient’s Voice: Social Media for Participatory Pharmacovigilance and BenefitsNabarun Dasgupta, Epidemico, USA

Panel DiscussionDavor Duboka, National Organisation for Rare Diseases, Serbia

In Partnership with PatientsSession 3 | KilsythSaturday, 28th May 2016, 09.00 – 10.30

PATIENT ENGAGEMENT THROUGHOUT THE LIFE CYCLE OF MEDICINES

Session Chair:Magda Chlebus, Director of Science Policy, EFPIA, Belgium

Strategy of Patient Organisations in Research and Link to IndustryAna Mingorance, Scientific Director, European Federation Dravet Syndrome, Europe

The Need for an Open Infrastructure for Proactive Patient Engagement Throughout the Life Cycle of a ProductJeanne Regnante, Office of the Chief Medical Officer, Executive Director and Chief of Staff, MSD Europe, Inc., Belgium

Panel Discussion:Tim McLean, Clinical Operations Manager, EHDN, UKRamon Martí, Senior Scientific Project Manager, Vall d’Hebron Research Institute, Barcelona, CataloniaNathalie Seigneuret, Senior Scientific Project Manager, Innovative Medicines Initiative, Belgium

10.30-11.00 COFFEE BREAK, POSTERS AND EXHIBITION

Saturday, 28th May 2016, 11.00 – 12.30

Session 0104 | MoorfootSaturday, 28th May, 11.00 – 12.30

LAUNCH PLATFORMS

Session Chair:Serge Braun, Chief Scientific Officer, AFM, France

There have been some major developments which have brought or are aiming to bring innovative therapies, including in the advanced medicinal products domain, to patients. We will hear about the processes needed to bring stem cell therapy to the clinic, and how an innovative company led by a parent is trying to develop a gene therapy product to the clinic for Duchenne muscular dystrophy. Alongside patient driven initiatives, technology is a driver to some game changing programmes and needs to be considered as a facilitator and driver for change. Panel participants bring a wealth of experience in innovative funding mechanisms which can catalyse game changing research. The session will show how game changing ideas can come to fruition especially when innovative partnerships can be developed to support and partner the research.

Stem Cell Therapy (EuroStemCell)Graziella Pellegrini, Director, Cell Therapy Programme, Centre for Regenerative Medicine S. Ferrari, University of Modena and Reggio Emilia, Italy

Bioinformatics Infrastructures for GeneticsMarco Roos, Investigator of applications of BioSemantics and e-Science, Leiden University Medical Center, The Netherlands

US Gene TherapyCarl Morris, Solid Bio Sciences, USA

Panellists:Birthe Holm, President, Rare Diseases Denmark, DenmarkHanns Lochmüller, Professor of Experimental Myology, Newcastle University, UKTim Guilliams, Chief Executive, Healx, UK

SESSIONS


Session 0204 | FintrySaturday, 28th May, 11.00 - 12.30

DIAGNOSTIC TOOLS FOR ALL RARE DISEASES BY 2020, BUT WHAT ABOUT ALL RARE DISEASE PATIENTS?

Interpretation from English to RU & FR

Session Chair: Hugh Dawkins, Director, Office of Population Health Genomics, Health Department of Western Australia, Vice-Chair IRDiRC, Australia

IRDiRC set out the goal of a diagnostic for every rare disease by 2020. How far have we come in achieving this aspiration, and what will this mean in practice for clinicians and patients in health care systems based on the concept of equity? Will there be a group left behind by uneven scientific progress, and differences in resources? What does this mean for patients and families unable to be helped because of these variations, and how could we mitigate this though concerted scientific, national and global action?

IRDiRC Has Set This Goal, How Close Are We / How Realistic is it?Gert Matthijs, Laboratory for Molecular Diagnosis, Center for Human Genetics, UZ Leuven, Belgium

Dangers of Over-Regulation of Genetic Testing at EU Level David Barton, Chief Molecular Geneticist, NCMG (National Centre for Molecular Genetics), Ireland

If we achieve it, what will we do with it? How will it change / improve the Opportunities for Patients for Access to Diagnosis, Care and SupportHelena Kääräinen, Immediate Past President ESHG, National Institute for Health and Welfare, Finland

Discussion: Panellists: Hartmann Wellhoefer, Head of Medical Affairs, HAE/LSD, Shire Switzerland and Milan Macek, Professor of Medical and Molecular Genetics, Charles University, Prague, Czech Republic

Session 0304 | TintoSaturday, 28th May 2016, 11.00-12.30

THE LAST CORNERSTONE

Session Co-Chairs:Ri de Ridder, Director General, RIZIV-INAMI, BelgiumAna Palma, Global HTA & Country Patient Access Lead BeNeLux, Sobi, Belgium

This session will focus on the last “moment” of The Walk – the payers. With the EURORDIS-EPF “Call to Payers” as background, the session aims to discuss possible approaches to achieve what the patients are asking for, including the viability and potential of collaborative approaches between Member States and healthcare systems as a way to address potential access and reimbursement issues. Additionally, a perceived game-changer that could allow further developments in bringing payers to the table – including trust and transparency – will be highlighted, with the objective of further understanding if and how these can be addressed. The lessons learned from the MoCA (Mechanism of Coordinated Access to Orphan Medicinal Products) and other collaborative experiences to date will be shared with the aim of discussing how these learnings could potentially be brought into a more widely used or mainstream approach – and whether these dialogues could become common practice as a possible tool to support timely, effective and sustainable access to effective treatments.

EURORDIS Call on Payers to Get Things Done!Yann Le Cam, Chief Executive Officer, EURORDIS, France

We Are Doing it: BE–NL Collaboration Francis Arickx, Advisor, RIZIV/INAMI, Belgium

Experience in MoCAAnna Bucsics, External Lecturer, Medical University of Vienna, Austria

Session 0404 | SidlawSaturday, 28th May 2016, 11.00 – 12.30

INTEROPERABILITY IS A STATE OF MINDInterpretation from English to RU & FR

Session Chair:Henrique Martin, Project Coordinator, EXPAND Project, Portugal

Living in the ‘connected generation’, its surprising to see that expertise in the rare disease field remains isolated. A wealth of knowledge and experience sit in pockets within Europe, locally accessible by only a scattering of people living with a rare disease. Is interoperability a state of mind, that will spark into life under European Reference Networks as clinicians across Europe collaborate under these new networks? Are the building blocks in place for the first ERNs to enable fast and safer ways to share data, communicate about care and bring expertise locally to the patients across Europe? This session aims to share the seeds of success in sharing expertise and data using eHealth and seeing how they can grow to meet the needs of the rare disease community.

Establishing a Trustworthy eHealth EcosystemVictoria Headley, RD-ACTION Thematic Coordinator, John Walton Muscular Dystrophy Research Centre, Newcastle University, UK

Digital Care Networks: The new Face of HealthcareDenis Lacombe, Director, European Organisation for Research and Treatment of Cancer (EORTC), Belgium

The Value in Virtual HealthcareHelen Cross, Clinical Neurosciences, UCL-Institute of Child Health, UK

Building the Registry of the FutureSimona Martin, Scientific Officer, European Commission, Joint Research Centre (JRC), Italy

Session 0602 | PentlandSaturday, 28th May 2016, 11.00 – 12.30

RARE DISEASES GOING GLOBAL

Session Chair: Durhane Wong Rieger, President, CORD, Canada

We are at a new place, coordinating and building strength. How is this being transformed into making a difference at global, national and local levels? What are we contributing to? The discussion will be led by key players forming the rare disease eco-system today. The panellists will present the patient, research and industry perspectives and explore the synergies between all stakeholders towards the common goal of more research, more treatments and better quality of life for people living with rare diseases.

SESSIONS


Panel Discussion:

Rare Diseases InternationalKelly du Plessis, President, Rare Diseases South Africa, South Africa

IRDiRC Paul Lasko, Scientific Director, CIHR Institute of Genetics, Immediate Past Chair of IRDiRC, Canada

IFPMAEmmanuel Chantelot, Chair, IFPMA Rare Diseases Working Group, Head of International Government Relations and Public Affairs, Shire, Belgium

ICORD John Forman, Executive Director, NZORD, New Zealand President of ICORD and former Executive Director, NZORD, New Zealand

ORPHANETAna Rath, Director, Orphanet, France

NGO Committee for Rare Diseases, UN, NY Anders Olauson, Founder and Chairman, Agrenska, Sweden

JPA/ASridYukiko Nishimura, Founder and Director, Japan Patient Association, Japan

In Partnership with PatientsSession 4 | KilsythSaturday, 28th May 2016, 11.00 – 12.30

INNOVATIVE ’GAME CHANGING’ COLLABORATIONS BETWEEN INDUSTRY AND PATIENT ORGANISATIONS

Session Chair:Mark Krueger, President, MK&A, USA

HAE Patient Identification and DiagnosisTom Croce, Head of Global Patient Advocacy, Shire, USA

Co-creating Relevant and Useful Primary Packaging and Administration for People with HaemophiliaJosie Godfrey, Public Policy and External Affairs, Swedish Orphan Biovitrum AB (SOBI), UK

The Protect Pregnancy ProjectStella Blackburn, Vice President, Global Head of Risk Management, Real World and Late Phase Research, Quintiles, UK

Developing Patient Registries for Rare DiseasesMichael Lüttgen, Vice President International Alliance Management, Horizon Pharma GmbH, Germany

12.30-14.00 LUNCH, POSTERS AND EXHIBITION

13.00-14.00 SOAP BOX LUNCH SESSION

Saturday, 28th May 2016 | 14.00 – 15.30

Session 0105 | MoorfootSaturday, 28th May, 14.00 – 15.30

SUSTAINABLE RESEARCH AND AFFORDABLE THERAPIES TO MAINTAIN OUR ORBIT

Session Chair:Peter A Mossey, Professor of Craniofacial Development & Director WHO CC, Dundee University Dental School, Scotland, UK

Public and private funding has significantly supported research and development in Rare Diseases and therapies are progressing along the clinical pipeline. With this comes a new responsibility and imperative for supportive research, especially where it comes to understanding the health economic perspective for the provision of therapies for Rare Diseases. The pros and cons of specifically addressing Rare Diseases as a special case for health economic assessment will be examined, in the context of the sustainability and future of funding for Rare Diseases research. The session will dissect the rhetoric and realities around the IRDiRC goals of 200 new therapies for Rare Diseases by 2020 and the related funding streams if Rare Diseases drugs are seen as unaffordable and set the stage for potential solutions.

Debate SessionKatherine Payne, Professor of Health Economics, Manchester University, UKMilan Macek, Professor of Medical and Molecular Genetics, Charles University, Prague, Czech-RepublicMichael Schlander, Chairman and Scientific Director, Institute for Innovation & Valuation in Health Care, Germany

Session 0205 | FintrySaturday, 28th May, 14.00-15.30

PATIENTS NEED ACURATE DIAGNOSISInterpretation from English to RU & FR

Session Chair: Alastair Kent, Director, Genetic Alliance UK, UK

This session will give patients, family members and others the opportunity to ask a panel of experts the questions that really matter. We have the potential to generate volumes of data unimaginable only a few years ago. What does this mean? Why can't doctors tell us everything that genome sequencing reveals? How can I find out about incidental findings? Why are so many variations in my genome not understood? What can be done to reduce unfair genetic discrimination - between diseases or between countries? Who owns my genome? What about my privacy? These may be some of the issues explored in this session.

Panel Discussion: Daniel Renault, President, Federation of European Associations of patients affected by Renal Genetic Diseases (FEDERG), FranceJulian Isla, Services Manager, Microsoft, SpainLisen Julie Mohr, Communications Advisor, Frambu, NorwayLarissa Kerecuk, Rare Disease Lead, Birmingham Children’s Hospital, UKHelen Kääriäinen, National Institute for Health and Welfare, FinlandHarriet Teare, Direct Project Officer, HELEX, University of Oxford, UK

SESSIONS


Session 0305 | TintoSaturday, 28th May, 14.00 – 15.30

WALKING THE PATH… WHAT DOES THE VIEW LOOK LIKE AND WHERE IS THE PATH LEADING US?

Session Co-Chairs: Yann Le Cam, Chief Executive Officer, EURORDIS, FrancePeter O’Donnell, Associate Editor, Politico, Belgium

The last session aims to bring together the different elements along the pathway from ideas to patients. The objective is to zoom back out of the different “moments” of The Walk, connecting all these different dots into an agreed way forward involving all the different stakeholders – a call for action: “So what are you and we going to do about all of this?” Stakeholders with responsibilities at different stages of the walk will be asked to summarise what elements are critical from their perspective, what their expectations are of the other stakeholders and what steps they can identify in order to improve the development and availability processes for orphan medicinal products and rare disease therapies. The objective is to leave with a clear plan of action, which will lay the work programme for the next 2 years and beyond.

Call to Action!Yann Le Cam, Chief Executive Officer, EURORDIS, France

The Importance of TrustBecky Buell, Co-Founder and Partner, Meteos, UK

Panel Debate Chaired by Peter O’DonnellTony Hoos, Head of Medical for Europe, Amgen, SwitzerlandBruno Sepodes, Chair, Comp, Professor, University of Lisbon, PortugalLesley Greene, Vice-Chair COMP, Vice-President CLIMB, EURORDIS Patient Representative, UK Elangovan Gajraj, Senior Technical Adviser, Scientific Advice Programme, NICE, UKAnna Bucsics, External Lecturer, Medical University of Vienna, Austria Scott Bryson, Interim Co-vice Chair, Scottish Medicines Consortium, Scotland, UK

Session 0405 | SidlawSaturday, 28th May, 14.00 – 15.30

WILL I BENEFIT FROM AN ERN IN REALITY?Interpretation from English to RU & FR

Session Chair:Till Voigtländer, Clinical Institute of Neurology, Medical University of Vienna, Austria

Will ERNs be the game changer in healthcare? From concept to reality, how will ERNs live up to our expectations? Will they enable improved access to high quality healthcare? Will these networks see the free movement of expertise, knowledge and patients? This session will show how expertise has travelled to the patient, how patients have travelled to the expertise and where the expert and patient travel virtually. How Member States have worked together to enable care to be provided in other countries to meet the needs of their population.

Breaking Down the Barriers to AccessFrançois Houyez, Treatment Information and Access Director, Health Policy Advisor, EURORDIS, France

Virtual Care: The Swedish ExperienceLars Grip, Director of Research, Development and Education, Sahlgrenska University Hospital, Gothenburg, Sweden

Hurdles to Highly Specialised HealthcareMaurizio Scarpa, Clinical Lead for Rare Metabolic Diseases, Director of the Centre for Rare Diseases, Helios Dr. Horst Schmidt Clinic, Germany

Session 0603 | PentlandSaturday, 28th May 2016, 14.00 – 15.30

TURNING RARE DISEASES INTO AN INTERNATIONAL PUBLIC HEALTH PRIORITY

Session Chair: Kawaldip Sehmi, Chief Executive Officer, IAPO (International Alliance of Patients’ Organisations, UK

How to bring the national debate into the international policy agenda? How to make actions on both levels mutually reinforcing? The session will analyse the value added of advocating for rare diseases at the international and regional level. The panellists will present some of the tools that are being used to advocate for rare diseases as a public health priority to international institutions. Successful programmes led by two experienced disease-specific federations will be showcased to demonstrate that it is possible to implement rare disease policies in developing countries.

International Patient Organisation for Primary Immunodeficiencies (IPOPI) Johan Prevot, Executive Director, UK

Thalassaemia International Federation Androulla Eleftheriou, Executive Director, Thalassaemia International Federation, Cyprus

Panel Discussion:John Dart, EURORDIS Board Member, Debra International, UK Avril Daly, EURORDIS Board Member, Retina International, IrelandAnders Olauson, Founder and Director, Agrenska, Sweden

In Partnership with Patients Session 5 | KilsythSaturday, 28th May 2016, 14.00 – 15.30

BUILDING CAPACITIES OF PATIENT ADVOCATES

Session Chair:Valentina Bottarelli, Public Affairs Director, Head of European & International Advocacy, Belgium

Spina Bifida – High Level Advocacy and on the GroundLieven Bauwens, Secretary General, International Federation for Spina Bifida and Hydrocephalus, Belgium

How to Make a Successful Campaign, Getting Members and MEPs Involved and Using SurveysPisana Ferrari, Vice-President, PHA Europe, Austria

Go with Gaucher - Capacity Building and Involving Young People in Successful Campaigns Anne-Grethe Lauridsen, Director, European Gaucher Alliance (EGA), UK

15.45-17.00 CLOSING PLENARY

17.00-17.30 INFORMAL FAREWELL COFFEE BREAK

SESSIONS


POSTERS PRESENTATIONS

Visit the poster presentations:Friday, 27 May 2016, 09.45–10.15, 13.00–14.00 and 15.30–16.30Saturday, 28 May 2016, 10.30-11.00 and 12.30-14.00

Theme 1 - Game Changers in Research

P 1 | ROMSE - A Web Based Register for Orofacial Manifestations in People With Rare DiseasesMarcel Hanisch, Johannes Kleinheinz, Lale Hanisch, Jochen Jackowski

P 2 | Developing Digital Information Tools to Improve Patient and Family Engagement in Paediatric Clinical ResearchCatherine Turner

P 3 | The Significantly Clinical and Genetic Heterogeneities of 479 Chinese Patients with Methylmalonic AciduriaZijiang Zhao, Yanling Yang

P 4 | «Deciphering the Mechanisms of Developmental Disease»: The DMDD Research ProgrammeJenna Lane and the DMDD Consortium

P 5 | Epidemiology of Systemic sclerosis using the Tuscany Registry of Rare DiseasesAlessio Coi, Simone Barsotti, Michele Santoro, Federica Pieroni, Fabrizio Bianchi, Mauro Galeazzi, Marco Matucci Cerinic, Rossella Neri, Enrico Selvi, Elena Silvestri, Anna Pierini

P 6 | Biobanks Platform: Collections of Samples of Rare Diseases for Biomedical Research in SpainH. A. Villaverde, M. Posada de la Paz, M. Almeida, I. Arenaz, T. Escámez, MA Fortuño, L. Iglesias, A. Maroto, A. Martínez-Cantó, S. Teijeira, C. Ayuso, L. Novoa

P 7 | Clementia Pharmaceuticals and International FOP Association Collaborate to Advance Drug DevelopmentDonna Grogan, Stéphanie Hoffmann, Betsy Bogard, Chris Bedford-Gay

P 8 | Development of a Targeted Delivery Technology to Enhance the Treatment Of CystinosisRosaleen Joy Anderson

P 9 | E-Rare Efforts Towards Patients’ Involvement in Rare Diseases Research And Funding ActivitiesDaria Julkowska

P 10 | The Socioeconomic Burden of Dravet Syndrome: A Literature ReviewJohn Irwin, Kristin Pagano, Catherine Rycroft, Uzmah Sabar

P 11 | The European Narcolepsy Network (EU-NN) Database- Significance of all Patients with NarcolepsyEmmalee Maschauer, Renata Riha

P 12 | A Structured Assessment of Motor Function and Behavior in Patients with Kleefstra SyndromeHeidi Elisabeth Nag

P 13 | The Hidden Costs of Rare Diseases: A Feasibility Study (work in progress)Amy Simpson, Amy Hunter

P 14 | Possible Role of Genetics Clinics in Returning Biobank Results to DonorsHelena Kääriäinen, Minna Brunfeldt

P 15 | Being partners in Research Frontiers towards an Inclusive Pre-Trial ModelSara Casati, Alessia Daturi, Tommasina Iorno, Giovanna Graziadei, Maria Domenica Cappellini, Sarah Marktel, Fabio Ciceri, Alessandro Aiuti, Giuliana Ferrari

P 16 | Epidemiology of Behçet’s Disease using the Tuscany Registry of Rare DiseasesMichele Santoro, Rosaria Talarico, Alessio Coi, Federica Pieroni, Anna Pierini, Luca Cantarini, Fabrizio Cantini, Giacomo Emmi, Andrea Matucci, Rossella Neri, Paola Parronchi, Fabrizio Bianchi

P 17 | Demographic and Phenotypic Comparison of Huntington’s Disease In Europe And North America: Data from REGISTRY and COHORT, Two Prospective Observational Cohort StudiesMichael Orth, Juliana Bronzova, Christine Tritsch, Ray Dorsey, Jean-Marc Burgunder, Armin Gemperli

P 18 | First Hope for a Prevention for Congenital Hydrocephalus Jaleel Miyan, Megan Gurney, Naila Naz

Theme 2 - Game Changers in Diagnosis

P 25 | Vascular Malformations in Proteus and Other Rare Regional Overgrowth Syndromes Peter Urban

P 26 | Genetic Diagnosis of the Rare Skin Disorder Pachyonychia Congenita Frances J. D. Smith, Neil J. Wilson, Edel A. O’Toole, Maurice A. van Steensel, Philip Gard, C. David Hansen, Mary E. Schwartz, Eli Sprecher

P 27 | Belgian Feasibility Study on Clinical Biology Analyses used in a Context of Rare Diseases and Reference LaboratoriesNathalie Monique Vandevelde

P 28 | SpainUDP: a new “Undiagnosed Rare Diseases Program” in Spain Manuel Posada de la Paz, Estrella Lopez

P 29 | The Similan Clinic in Beijing, ChinaZijiang Zhao

P 30 | Italian Telethon Undiagnosed Diseases Program: a Pilot Research ProgramErmanno Rizzi, Bruno Dallapiccola, Angelo Selicorni, Nicola Brunetti-Pierri, Giancarlo Parenti, Sandro Banfi, Marco Tartaglia, Lucia Monaco, Lele Castello, Vincenzo Nigro

P 31 | Target 5000 – Gateway to Vision for Irish Retinal Degeneration PatientsCaitriona Dunne, Maria Meehan, Fionnuala Hickey

P 32 | Individuals with Different Rare Diseases are united by Similar Pre-Diagnostic CharacteristicsSandra Mehmecke, Susanne Blöß, Christian Klemann, Werner Lechner, Frank Klawonn, Ann-Katrin Rother, Lorenz Grigull

P 34 | Audit of a Next Generation Sequencing Diagnostic Service for Malformation of Cortical Development – The First 2 YearsHood Mugalaasi, Sheila Mary Palmer-Smith

P 35 | Audit of a Next Generation Sequencing Diagnostic Service for Early Onset Infantile Epilepsy – The First 2 YearsHood Mugalaasi, Sheila Mary Palmer-Smith

P 36 | C26-ceramide is a New and Sensitive Biomarker for Farber diseaseClaudia Cozma, Marius Ionut Iurascu, Sabrina Eichler, Susanne Zielke, Arndt Rolfs

Theme 3 - Game Changers in Drug Development, Authorisation and Access

P 40 | The Role of COAs in the Drug Approval Process of Products for the Treatment of Duchenne Muscular Dystrophy (USA and Europe)Benoit Arnould, Khadra Benmedjahed, Catherine Acquadro

P 41 | Orphan Compassionate Use ProgramsFrederic Pailloux

P 42 | Strategies for Successful Set Up of Muticentre Pivotal Studies in Ultra-Orphan DiseasesCamille Metais, Frédéric Honoré, Paz Martin, Myriam Radjei

POSTERS


P 61 | Choosing Clinical Outcomes Assessments for Angelman’s Syndrome: Challenges and Potential Solutions in Rare DiseasesRaquel Cabo, Matthew During

P 62 | Managed Entry Agreements for Orphan Drugs in Italy Active on February 2016M. Prada, M. Mantovani, C. Sansone, C. Bertozzi

P 63 | Italian 648/96 Law Application between Jan 2013 and Dec 2015: Focus on Orphan DrugsM. Prada., M. Mantovani, C. Sansone, C. Bertozzi P 64 | Case Study: Complex Regional Pain SyndromeMaria E. Sheean, Giuseppe Capovilla, Dinah Duarte, Andreas Farkas, Mathias Hofer, Michel Hoffmann, Julian Isla, Armando Magrelli, Segundo Mariz, Ana Mingorance, Benedetta Polsinelli, Mario Ricciardi, Evyenia Shaili, Violeta Stoyanova-Beninska, Josep Torrent-Farnell, Stelios Tsigkos, Bruno Sepodes

P 65 | Revisiting Pre-Clinical Models used to Support Orphan Drug Designations in Rare Neurological Conditions Maria E. Sheean, Giuseppe Capovilla, Dinah Duarte, Andreas Farkas, Mathias Hofer, Michel Hoffmann, Julian Isla, Armando Magrelli, Segundo Mariz, Ana Mingorance, Benedetta Polsinelli, Mario Ricciardi, Evyenia Shaili, Violeta Stoyanova-Beninska, Josep Torrent-Farnell, Stelios Tsigkos, Bruno Sepodes

P 66 | Marketing Authorisation of Orphan Medicines in Europe 2000-2013: A 13-Year ExperienceMatthias P. Hofer, Hanna Hedman, Stylianos Tsigkos, Thorsten Vetter, Maria Mavris, Jordi Llinares Garcia, Amelie Elsaesser, Martin Posch, Franz Koenig, Spiros Vamvakas, Jan Regnstrom, Stiina Aarum

P 67 | Evolving Prevalence of Haematological Malignancies in Orphan Designation Procedures in the EUBenedetta Polsinelli, Frauke Naumann-Winter, Segundo Mariz, Bruno Sepodes, Tsigkos Stylianos

P 68 | Experience from the Committee for Orphan Medicinal Products and the Paediatric Development Committee regarding medical condition(s) targeted by medicinal products in the context of Orphan Designation and Paediatric Investigational Plan.Andrea Ecker, Franca Ligas, Segundo Mariz, Frauke Naumann-Winter, Karl-Heinz Huemer, Armando Magrelli, Pippo Capovilla, Koen Norga, Bruno Sepodes

P 70 | The Significant Benefit of Orphan Medicines: Conceptual Framework and Retrospective Analysis of GroundsL. Fregonese, L. Greene, A. Andric, B. Bloech-Daum, P. Evers, J. Ersboll, H. Hedmann, V. Hivert, M. Hofer, K. Larsson, A. Magrelli, S. Mariz, M. Mozina, F. Naumann-Winter, D. O’Connor, B. Polsinelli, V. Stoyanova, V. Tillman, J. Torrent-Farnell, S. Tsigkos, K. Westermark, B. Sepodes

P 71 | Significant Benefit at Marketing Authorization of Orphan Medicines: The Need of Methodology for Assessing Major Contribution to Patient Care and Patients’ InputsL. Fregonese, L. Greene, A. Andric, B. Bloech-Daum, P. Evers, J. Ersboll, V. Hivert, M. Hofer, K. Larsson, A. Magrelli, S. Mariz, M. Mozina, F. Naumann-Winter, D. O’Connor, V. Stoyanova, V. Tillman, J. Torrent-Farnell, S. Tsigkos, K. Westermark, B. Sepodes

Theme 4 - Game Changers in Care Provision

P 78 | Presentation of a National Network: The French Network for Immuno-Hematological Rare Diseases «MARIH»Amélie Marouane

P 79 | Improving Patient Care in Rare Diseases – An Interdisciplinary, Multifaceted ApproachSaskia Karg

P 80 | Clinical Practice Guidelines for Rare Diseases: the Orphanet DatabaseSonia Pavan, Kathrin Rommel, Maria-Elena Mateo Marquina, Valérie Lanneau, Sylvie Maiella, Ana Rath

P 43 | TREAT-NMD: A Global Network to Accelerate Drug DevelopmentStephen Lynn, Annemieke Aartsma-Rus, Eric Hoffman, Filippo Buccella, Kevin Flanigan, Janbernd Kirschner, Nathalie Goemans, Eugenio Mercuri, Ichizo Nishino, Yuriko Oda, Petra Palmgren Lindwall, Jes Rahbek, Thomas Sejersen, Matthew Wood, Becca Leary, Volker Straub, Hanns Lochmüller, Kate Bushby

P 44 | The Asterix Consortium: Towards Better Evidence for New Treatments for Orphan DiseasesJohanna H. van der Lee, Armin Koch, Egbert H.E. Biesheuvel, Cor Oosterwijk, Caridad Pontes, Martin Posch, Ferran Torres, Rieke van der Graaf, G. Caroline M. van Baal, Kit C.B. Roes

P 45 | ‘Equitable Access to Medicines for Rare Disease Patients in Wales’Rhian R. Morgan, Angela Burgess, Emma Hughes

P 46 | Drug Repurposing: An Opportunity for Rare Diseases?Christine Fetro, Roseline Favresse, Nicolas Pineau, Anne-Sophie Miossec, Nadège Penhaleux

P 47 | Orphan Drugs in Europe: Does the Gross Domestic Product Define the Access to Orphan Drugs? Carina Schey

P 48 | ODAK - Orphan Drug for Acanthamoeba KeratitisC. Olsen, R. Head, A. Asero, S. Venturella, L. Favennec, C. van Kan

P 49 | Repurposing Drugs for Rare Diseases: Opportunities for the Public SectorElin Haf Davies

P 50 | Evidence Submitted by Sponsors at Time of Orphan Designation Application – a Retrospective Analysis Of EMA’s DatabaseThomas Morel

P 51 | The Vision DMD Project. Development of an Innovative Steroid-like Intervention on Duchenne Muscular DystrophyR. Head, C. Olsen, E. Hoffman, K. Bushby, E. Vroom, D. Athanasiou, R. Davis, M. Guglieri, M. Guglieri, L. Morgenroth, J. Haberlova

P 52 | Investigation of Managed Entry Agreements to Address Uncertainty around Orphan Drug Pricing and Reimbursement DecisionsRichard David Sear

P 53 | Understanding the Wider Impact of Adrenal Insufficiency: Patient Organisation Involvement in the TAIN ProjectAmy Simpson, Amy Hunter, Martin Whitaker

P 54 | Do Efficacy Data Predict Real-World Effectiveness of Orphan Drugs for Metabolic and Oncologic Diseases in the EU? Y. Schuller, C.E.M. Hollak, C.C. Gispen-de Wied, V. Stoyanova, M. Biegstraaten

P 55 | BOOSTB4 – A Clincial Study on Pre- and/or Postnatal Stem Cell Transplantation for Treatment of Osteogenesis ImperfectaCecilia Götherström

P 56 | Precision Medicine in Cystic FibrosisFredrick Van Goor, Julie Selkirk, Andrew Cutting, James Sullivan

P 57 | Patient Perspectives and Priorities on Access to Medicines for Rare Diseases in ScotlandLouise Coleman, Natalie Frankish, Emma Hughes, Beth McCleverty, Emily Muir, Amy Simpson and Nick Meade

P 58 | Early Intervention with Tafamidis Provides Long-Term Benefit in Delaying Progression of TTR-Familial Amyloid PolyneuropathyLeslie Amass, Márcia Waddington Cruz, Denis Keohane, Jeffrey Schwartz, Huihua Li, Balarama Gundapaneni

P 59 | Tafamidis Delays Disease Progression in TTR Familial Amyloid Polyneuropathy: Supportive Analyses from a Pivotal TrialDenis Keohane, Jeffrey Schwartz, Balarama Gundapaneni, Michelle Stewart, Leslie Amass

P 60 | Positive Real-World Effectiveness of Tafamidis in Delaying Progression in Transthyretin Familial Amyloid PolyneuropathyMichelle Stewart, Denis Keohane, Sarah Short, Jose Alvir, Moh-Lim Ong, Rajiv Mundayat

POSTERS


P 81 | ENERCA towards… the European Reference Network in Rare Hematological DiseasesMaria del Mar Mañú-Pereira, Victoria Gutiérrez-Valle, Joan Lluis Vives-Corrons

P 82 | ERuDiTe: the European Rare Disease Treatments ConsortiumCharlotte Wilhelmina Ockeloen

P 83 | Recommendations for the Development of Patient-Centered Outcome Measures for Rare DiseasesAH Jonker, LPL Lau, on behalf of the IRDiRC PCOM Task Force

P 84 | Survey on Social Support and Counselling Given to Rare Disease Patients in Specialised HealthcareKristina Franck, Risto Heikkinen, Elina Rantanen, Kati Saari

P 85 | The MHC-app Gives You the Opportunity to Simply and Rapidly find Information about Oral Health and Orofacial FunctionLena Romeling Gustafsson, Romeling Gustafsson

P 86 | Patient Involvement in the Designation of Centres of Expertise. The Dutch Approach as a Game Changer in EuropeK. Karsenberg, M. Segers, I. Roelofs, S. van Breukelen, C. Oosterwijk

P 87 | Psychosocial Care for Children with Rare Diseases by E-health: Quality of Life in Clinical PracticeMariette H.E. Driessens, Lisa van Bodegom, Anne Speijer, C. Oosterwijk, Hedy A. van Oers Lotte. Haverman, Perrine F. Limperg, Marjolein Peters

P 88 | Centres of Expertise for Rare Diseases: Designation Process in the NetherlandsJ.E. Carlier-de Leeuw van Weenen, P.G.M. van Overveld, G.J.B. van Ommen, M.C. Cornel, C. Oosterwijk, N.M.T. Bovy-van der Lugt, W.A.G. van Zelst-Stams

P 89 | The Wide Landscape of Existing Databases on Rare Diseases in France, a National SurveyCéline Angin, Amélie Ruel, Claude Messiaen, Rémy Choquet, Paul Landais

P 90 | An Evaluation Shared Model of Centres Of ExpertiseTommasina Iorno, Renza Barbon Galluppi, Nicola Spinelli Casacchia, Michele Del Zotti, Pietro Marinelli, Simona Bellagambi, Stefania Porchia, Romano Astolfo

P 91 | Rare Forms of Hereditary Hemochromatosis: A Report from the European Federation of Associations of Patients with Haeamochromatosis (EFAPH)F. Courtois, B. Butzeck, P. Brissot, D. Girelli, G. Porto

P 92 | Initial experiences with data collection in the Genetic Centres for the Central Registry of Rare Diseases in BelgiumAnnelies Mallezie

P 93 | Evaluating the German National Plan for Rare DiseasesViola Graefe, Michael Doerries

P 94 | The TETECOU Rare Disease Healthcare Pathway: Towards a National Multidisciplinary Patient-Centered Integrated CareFrançois Lecardonnel, Myriam de Chalendar, Audrey Legrand, Jessica Chaloyard, Marzena Switala, Jean Daniel Daumont and Marie-Paule Vazquez

P 95 | Exploring the Challenges Experienced by People with Muscular Dystrophy Living IndependentlyHonor Nicholl, Carmel Doyle, Jessica Eustace-Cook, Clair Kelly, Geraldine Prizeman, Catherine Tracey, Aileen Lynch

P 96 | Out of the Grey Zone: Study on Policies and Practices on Health and Wellbeing of People with Rare Diseases in MacedoniaStefan Chichevaliev, Marija Dimovska

P 97 Rare Voices of Ireland: The Lived Experience of Parents of Children with Mucopolysaccharidoses (MPS)Suja Somanadhan, Philip Larkin

P 98 | Psychomotor Development in Cri Du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation MethodsMaura Masini, Andrea Guala, Maria Elena Liverani, Marianna Spunton, Fabio Tognon, Marilena Pedrinazzi, Luisa Medalago, Paola Cerruti Mainardi, Silvia Spairani, Michela Malacarne, Mario Comelli, Cesare Danesino

P 99 | A Study on Twenty-Seven Rare Disease Networks in Europe Identified Through EU Reports and Scientific ArticlesM. De Santis, AE Gentile, RM Ferrelli, A. Polizzi, D. Taruscio

P 100 | The Italian National Rare Disease Registry: an Important Tool for Describing the Epidemiology of RDS in Italy and for ERNSD. Taruscio, P. Torreri, A. Rocchetti, G. Ferrari, L. Vittozzi, P. Salerno, Y. Kodra and the Rare Disease Regional Registries Working Group

P 101 | A registry for Epidermolysis bullosa (EB) in the EB House Austria: Simple and EffectiveH. Hintner, M. Laimer, J. Rebhan, J.W. Bauer, G. Pohla-Gubo

P 102 | EB-CLINET – An International Clinical Network for Epidermolysis Bullosa (EB) to Serve as a Model for a ERN For GenodermatosesG. Pohla-Gubo, J. Rebhan, E. Rettenbacher, I. Bregulla, H. Hintner

P 103 | Integrated Care at NoRo Center Zalau, RomaniaDorica Dan, Zsuzsa Almasi, Florina Breban

P 104 | Delivery of Drugs for Rare Diseases in Emilia-Romagna Region M. Volta, E. Rozzi, M.T. Montella

P 105 | Hub & Spoke Network for Rare Pediatric Diseases in Emilia-Romagna RegionM. Volta, E. Rozzi, M.T. Montella

P 106 | Disease Unawareness as Behavioural Determinant of Cognitive Involvement In Myotonic Distrophy Type 1S. Baldanzi, C. Simoncini, G. Ricci, L. Volpi, R. Lorio, F. Bevilacqua, A. Petrucci, C. Angelini, G. Siciliano

P 107 | The Experience of the Nation-wide Italian Collaborative Network of Mitochondrial DiseasesG. Siciliano, M. Mancuso

Theme 5 - Game Changers in Social Policy

P 112 | Patient/Rare Navigators Helps PLWRD ManageStephanie Jøker Nielsen, Birthe Byskov Holm

P 113 | Health Related Quality of Life in Children and Adults with Hypophosphatasia, Results from a European Patient SurveyIoanna Parthenaki

P 114 | “MEMOLE”, a Participatory Action Research to Map Quality Of Life Matrix for People Living with Rare DiseasesAlessia Daturi, Anna Ambrosini, Sara Casati

P 115 | Societal preferences for funding orphan drugs in the UKSiobhan Bourke, Catrin Plumpton, Dyfrig Hughes

P 116 | Rare Disease, Big Data: the Views of Rare Disease Patients on Systems for Sharing Data and BiospecimensPauline McCormack

P 117 | Empowering Partnerships: Putting People with a Rare Disease ‘In the Driving Seat’Ian Johnston, Raquel Castro, Lisen Julie Mohr, Dorica Dan

P 118 | The Rare Reality – an Insight into the Patient and Family Experience of Rare DiseaseEmily Muir, Natalie Frankish

P 119 | The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS)Michelle Griffin, Sarah Stevens, Charlotte McClymont and the NCARDRS Team

P 120 | Key Issues to Support the Integration of Rare Diseases into Social Services and PoliciesDorica Dan, Raquel Castro

POSTERS


P 139 | Ring14 International: The Development of a «Global» Network to Fight a Chromosomal DisorderMarco Crimi, Yssa DeWoody, Ingrid Deguisne, Eva Marin, Jan Shutte, Hiwaitzi Surud, Stefania Azzali

P 140 | A qualitative Study on the Involvement of Patients in Orphan Drug TrialsCharlotte M.W. Gaasterland, M.C. Jansen-van der Weide, Johanna H. van der Lee

P 141 | The Patient Reported Outcomes, Burdens and Experiences (PROBE) Study Phase 1 Methodology and FeasibilityMark W Skinner, Mariëtte Driessens, Randall Curtis, Neil Frick, Alfonso Iorio, Michael Nichol, Declan Noone, Brian O’Mahony, David Page, Jeffrey Stonebraker

P 142 | “To better Combine Disease and Everyday Life”. A Study on Cooperation between Public Sector and Rare Disease OrganizationsElina Rantanen

P 143 | Incorporating Patient Perspective in Funding Decisions for Rare Disease Treatments: A Review of International Payer SystemsChristina Palaska

P 144 | Rare Disease UK & the Welsh Rare Disease Patient Network: Empowering Patients to Take Part in the Policy ProcessRhian R Morgan, Angela M Burgess, Emma L Hughes

P 145 | Together we can be stronger – 1st Danish meeting for Patients/Families with Inborn Errors of MetabolismAnne-Grethe Lauridsen, Nina Tuxen, Stephanie Jøker Nielsen, Pia Seitzberg, Annika Dybdal

P 146 |The FOP Connection Registry: A Patient Registry Directed by the FOP CommunityNeal S. Mantick and the International FOP Association Research Committee

P 147 | Creating a European Chromosome 18 Clinical Research NetworkBonnie Mckerracher, Jannine Cody

P 148 | Introduction the „Lifebelt” Information Centre for the Rare Disease Patients, Created by HUFERDISGabor Pogany

P 149 | The Role of a Patient Organisation in Driving the Research Agenda in a Rare Disease (Batten Disease)Heather Ann Band, Andrea West

P 150 | Expertise for Rare Diseases MappedH.K. Dekker, M.C. Effing-Boele, M.J.A. Hammann

P 151 | Leaving the Nest Project – INDEPENDENT LIVING TRAININGZsuzsanna Bojtor Pogányné

P 153 | Project Humanized InfusionsMrs. Bianca Barbis

P 153 | Patient Experiences of Rare Genetic Disease and Perspectives on Mitochondrial DonationRebecca Dimond

P 154 | Together on the Frontiers of Research and Caring. RD Hot Issues as the Scientific Citizenship Horizon during the Biotech WeekElisabetta Gecchele, Nicola Spinelli Casacchia

P 155 | Regist-RARE to Infrastractu-RARE. Patients and Pos as Proactive PartnersEva Pesaro, Sara Casati, Renza Barbon Galluppi, Nicola Spinelli Casacchia, Luisa Testa, Luca Sangiorgi, Mariagrazia Calevo

P 156 | A National Network for Medical Students who Dare to Think RareHannah Grant, Debra Fine, Emma Keohane, Victoria Ward, Lucy McKay and Pat Roberts

P 157 | Painful Light Intolerance since Childhood? - Think Erythropoietic Protoporphyria (EPP)! Jasmin Barman-Aksözen, Elke Hauke, Rocco Falchetto

P 158 | Principles of Care for Primary ImmunodeficienciesJohan Prevot

P 121 | The Asterix Benchmarks for Ethically Sound Research in Rare DiseasesR. van der Graaf, G. Caroline, M. van Baal, MC Jansen-van der Weide, JJM van Delden

Theme 6 - Game Changers in Global Society

P 123 | Rare Diseases and Disability: Three Orphanet Tools to Improve the Information Currently AvailableAna Rath, Sylvie Maiella

P 124 | Campaign and Events in Collaboration between Different Rare Stakeholders in SwedenMette Kristina Højgaard Larsen, Veronica Wingstedt de Flon

P 125 Orphanet-Italy: Becoming Social to Generate New Knowledge Rita Mingarelli, Serena Ciampa, Martina Di Giacinto, Francesca Clementina Radio, Roberta Ruotolo, Bruno Dallapiccola

P 126 | Adopting Quality Criteria for Websites on Medical Information about Rare DiseasesFrédéric Pauer, Jens Göbel, Holger Storf, Svenja Litzkendorf, Ana Babac, Martin Frank, Verena Lührs, Leena Bruckner-Tudermann, Joerg Schmidtke, Lisa Biehl, Thomas O. F. Wagner, Frank Ückert, Johann-M. Graf von der Schulenburg, Tobias Hartz

P 127 | Learning from the History: Means of Imagining the Community of Rare DiseasesKoichi Mikami

P 128 | Sharing science in the language of patientsJulie Walters, Kassandra Karpathakis, Pete Chan, Sarah Venugopal

P 129 | #RAREvolution: the Use of Digital Communication to Support Rare Disease ResearchChiara Ciriminna Swan, Olivier Menzel

P 130 | Availability of Medical Care and Medicine Support for Patients with Rare Diseases across the RF Territory (2013-2015)Elena Krasilnikova

P 131 | Bridging the Gaps between Medical and Social Care For People Living With a Rare DiseaseRaquel Castro

P 132 | The European Cystic Fibrosis Patient Registry, a Useful Tool for People with CFJacqui Van Rens

P 133 | Health Systems Resilience for Rare Diseases: Preliminary Results of a Narrative ReviewRita Maria Ferrelli, Amalia Egle Gentile, Marta De Santis, Domenica Taruscio.

P 134 | National Plans/Strategies for Rare Diseases: Adherence to the “EC Recommendation on an Action in the Field of Rare Diseases”Marta De Santis, Amalia Egle Gentile, Rita Maria Ferrelli, Agata Polizzi and Domenica Taruscio

Theme 7 - Rare Disease Patient Groups Innovations as Game Changers

P 136 | The eAcademy for Tay-Sachs & Sandhoff Disease AppDaniel Lewi, Patricia Durao

P 137 | Building a Model Collection of Guidelines for Rare DiseasesKaren Ritchie, Jenny Harbour, Lorna Thompson

P 138 | The AKU Society: Raising Awareness, Identifying and Supporting PatientsEve Whitley

POSTERS


P 159 | Syndromes and Diseases without a Name: A European ProblemLauren Roberts, Marianne Nijnuis

P 160 | Collaboration for the Management of Rare Diseases – ColaboRAREDorica Dan, Florina Breban, Zsuzsa Alm

P 161 | People with CIDP and quality of life. A survey on the Patients’ Needs and Their CaregiversS. Pinnelli, A. Fiorucci, M. Marra, M. De Nunzio, C. Ricchiuto

P 162 | Building Clinical Trial Capacity for Duchenne Muscular Dystrophy in the United KingdomEmily Crossley, Becky Davis, Cathy Turner, Michela Guglieri, Kate Bushby

P 163 | Innovative Approach in Managing Rare Disease HelplinesAnja Barač, Valentina Marinović, Anja Martić, Neven Obradović-Kuridža, Dušan Rašić, Fran Šaler, Nikola Šoštar, Maja Vizjak

P 164 | The Ågrenska Family Program Perceived Usefulness and Effects of Family Courses for Rare DiseasesAnnica Harrysson, AnnCatrin Röjvik, Gunilla Jaeger

P 165 | A Web Model of Interactive Framework for Patients and Physicians: The Italian “Rarebox.Org” Project for Chronic InflammatoryErika Schirinzi, Cinzia Lucchesi, Elisa Giorli, Dario Cocito, Eduardo Nobile Orazio, Mario Bochicchio, Gabriele Siciliano, Massimo Marra

Theme 8 - other/open topic

P 167 | Psychomotor Intervention to Enhance Self- And Body-Concept in Boys with Duchenne Muscular Dystrophy. Single-Case StudiesmMarianne Irmler

P 168 | Off-Label use of the Expensive Orphan drug Eculizumab in France 2009-2013 and the Impact of LiteratureJohann Andres Castaneda-Sanabria Sr

P 169 | Sod Italia Running TeamDiana Vitali

P 170 | Estimating Prevalence of Non-HIV Associated Lipodystrophy (LD)Elaine Chiquette, David Araujo, Praveen Dhankhar, Jerome Premmereur, Abhimanyu Garg

P 171 | The Irish National Rare Disease Office and Orphanet Ireland: establishing Ireland on the Rare Disease MapDM Lambert, R O’Shea, R Marron, SA Lynch, EP Treacy

P 172 | Premium Costumer SurveyBirthe Byskov Holm, Lene Jensen

P 173 | How to make Rare Diseases Visible in European Healthcare SystemsFranzisca Dulas, Magdalena María Marx, Céline Angin, Rémy Choquet, Paola Facchin, Stefanie Weber

P 174 | The Economic Burden and its Consequences on Families with Children Affected by Myasthenia Gravis in ChinaDong Dong, Ji Liu

P 175 | German National Action Plan (NAP) for People with Rare Diseases: New ResultsKatharina Heuing, M.Sc., Miriam Schlangen, Alexandra Halbach, Véronique Héon-Klin, Birgit Schnieders

P 176 | ‘Living with Genetic Conditions’: an Educational Tool to Promote Knowledge and Understanding of Rare DiseasesRhian R Morgan, Angela M Burgess, Emma L Hughes

P 177 | Do Myeloma Patients Experience Worse Care Than the Cancer Average? Findings from Secondary Analysis of Patient-Reported Experience DataSarah Richard, Clare Shaw

P 178 |The British Paediatric Surveillance Unit - 30 Years of Rare Disease Surveillance in the United Kingdom and IrelandRichard Lynn Esq

P 179 | The International Network of Paediatric Surveillance Units – Facilitating Paediatric Rare Disease Research Across the WorldRichard Lynn Esq

P 180 | Joint Action Support for Rare Disease European Reference NetworksHannah Murray, Victoria Hedley

P 181 | SBONN – Rare Diseases Nordic Network of Patient OrganisationsElisabeth Wallenius, Birthe Byskov Holm, Mirja Heikkila, Guðmundur Björgvin Gylfaso, Hedevig Castberg – L.

P 182 | First Report on the Condition of the Person Living with Rare DiseaseRenza Barbon Galluppi, Nicola Spinelli Casacchia, Michele Del Zotti, Tommasina Iorno, Pietro Marinelli, Annalisa Scopinaro, Simona Bellagambi, Elisabetta Gecchele, Stefania Porchia, Romano Astolfo

P 183 | Building a Platform for Exchanging Patients’ Information among Doctors, Researchers and Patients on J-RAREMasatoshi Iwasaki, Yukiko Nishimura, Kunihiro Nishimura, Shun Emoto, J-RARE patient organization groups, Soichi Ogishima

P 184 | Challenges in the Production of Rare Disease Patient InformationE. Thompson, P. Powell, D. Smyth

P 185 | Analysing the Effects of Personalised Medicine on the EU Regulatory Framework for Orphan Product Research and DevelopmentJasjote Grewal

P 186 | Evaluating the use of Wearable Technology and Mobile Apps to Monitor DiseasesDavies, E.H., Skinner, J., Colin-Histed, T., Singh, M., Vellodi, A. Jagadeesh, S

P 187 | Reimboursement of Bleeding Disorders Treatment in LatviaBaiba Ziemele

P 188 | EUCERD Joint Action: Working for Rare DiseasesStephen Lynn, Victoria Hedley, Antonio Atalaia, Teresinha Evangelista, Kate Bushby on behalf of the EUCERD Joint Action

P 189 | The TREAT-NMD Advisory Committee for Therapeutics (TACT): Facilitating Drug Development in Neuromuscular Rare DiseasesVolker Straub, Kate Bushby, Kathryn Wagner, Kim Down

P 190 | Children’s Book: The Recipe for a PersonSanna Kalmari, Ulla Parisaari, Ilona Partanen

P 191 | Promoting Implementation of Recommendations on Policy, Information and Data for Rare Diseases: RD-ACTIONSylvie Maiella, Ana Rath

P 192 | Orphanet the European database for Rare DiseasesCharlotte Gueydan, Sylvie Maiella, Annie Olry, Valerie Lanneau, Martin Arles, Charlotte Rodwell, Marc Hanauer, Ana Rath

P 193 | Evaluation of a Course about Rare Diseases for Recidency DoctorsAnnCatrin Röjvik, Annica Harrysson, Robert Hejdenberg, Diana Swolin-Eide

P 194 | Legal and Socio-Cultural Support to Rare Disease Patients in Serbia –Qualitative Research Results of the Project “Equitables”Marta Sjenicic, Marko Milenkovic, Milos Milenkovic, Isidora Jaric

P 195 | Analysis of the Global Spending with Orphan Drugs on the Portuguese National Health ServiceInês Sousa, Ricardo Ramos, Mariana Costa

P 196 | Ethical Aspects of Rare DiseasesKrzysztof Piotr Borski

POSTERS


BOEHRINGER INGELHEIM, Germany | Space 1

Boehringer Ingelheim is one of the world’s 20 leading pharmaceutical companies. Headquartered in Ingelheim, Germany, Boehringer Ingelheim operates globally through 145 affiliates and a total of some 47,500 employees. The focus of the family-owned company, founded in 1885, is on researching, developing, manufacturing and marketing new medications of high therapeutic value for human and veterinary medicine.

ORPHANET-INSERM, France | Space 2

Orphanet is the International Rare Diseases and Orphan Drugs Database. It is a comprehensive repertory of information and data on rare diseases. It is also the only project that establishes a link between diseases, the existing textual information and the appropriate services for patients, researchers and healthcare professionals. Moreover, Orphanet database content is robust as it is expert validated, updated continuously and quality controlled. These unique features make Orphanet an essential tool as it allows different stakeholders, and in particular health professionals and researchers, to keep up to date with the constantly evolving knowledge concerning rare diseases.

INTEXO Srl, Italy | Space 3

Intexo is an Italian company focused on regulatory affairs, pricing, reimbursement, and market access. Thanks to our experience over the past 40 years and our partnership with IMS Health – its information and data heritage - we are able to deliver integrated and innovative solutions for market access. In our view, market access results from a continuous interaction among regulatory and scientific processes. The final goal is the opportunity for each patient to achieve the best treatment available, in a balance between appropriateness and sustainability.

It means a radical change in the perspective. It means to switch from market access to PATIENT ACCESS.

Our deep knowledge of the Italian context, combined with the experience gained with different clients - from leading pharma to emerging biotechs - through diversified projects across the entire product life-cycle (from early decisions, through early access, to economic evaluations and price & reimbursement submissions), offers to our customers something unique.We strongly believe that the current environmental situation, with a strong dichotomy between the value of therapeutic innovation and the sustainability of spending, requires capabilities to carry out analysis, to translate regulatory processes into actions and to have a thorough knowledge of the market dynamics.

With its team of experienced consultants in regulatory affairs, market access and health economics, Intexo ensures robust and reliable strategies and solutions, to optimize the access to the Italian market.

INTEXO: Doorways to the Italian Market.

OpenApp; Ireland; Space 4

OpenApp is an innovative software development company focused on the Healthcare sector. Our specialties lie in utilizing open source tools to deliver applications, systems & solutions. We have extensive experience in Health Intelligence, Geographic Information and Patient Registries.OpenApp have written an extensive white paper on Rare Disease Registries. Email [email protected] to request a complimentary copy.

KYOWA KIRIN, United Kingdom I Space 5

Kyowa Hakko Kirin is an R&D-based life sciences company with special strengths in biotechnology. The Kyowa Hakko Kirin Group companies strive to contribute to the health and well-being of people around the world by creating new value through the pursuit of advances in life sciences and technologies.

Kyowa Hakko Kirin is a Japan-based Global Specialty Pharmaceutical Company contributing to human health and well-being worldwide through innovative drug discovery and global commercialization, driven by state-of-the art antibody technologies mainly in the core therapeutic areas of oncology, nephrology and immunology.

Our mission is to make steady advances as we do our utmost to respond to the requests and hopes of patients suffering from diseases for which there are currently no adequate treatments, as well as their families and medical professionals. To deliver the fruits of our dedication and commitment to large numbers of patients as quickly as possible.

NHS RESEARCH SCOTLAND, United Kingdom | Space 6

Promote and support excellence in clinical and translational research in Scotland so that patients can benefit from new and better treatments. Formed through a partnership of Scottish NHS Boards and the Chief Scientist Office of Scottish Government, we work to ensure that NHS Scotland provides the best environment to support clinical research.

DOLON, United Kingdom | Space 7

DOLON is a strategic market access consultancy for life sciences companies seeking to obtain reimbursement for their rare and severe disease medicines. We take complex data and translate it into simple, evidence-based value propositions. Key services include: Value Strategy & Communication, Research & Analytics, and Market Access Policy.

NCARDRS, Public Health England | United Kingdom; Space 8

The National Congenital Anomaly and Rare Disease Registration Service, NCARDRS, Public Health England; A resource to support patients, clinicians, service delivery, commissioning and public health. NCARDRS incorporates the regional congenital anomaly registers, the National Down Syndrome Cytogenetic Register (NDSCR), and Orphanet UK.

Quintiles, USA | Space 9

Quintiles is the largest provider of product development and integrated healthcare services, including commercial and observational solutions to help customers improve their probability of success.

EURORDIS, France | Space 10

EURORDIS, the European Organisation for Rare Diseases, is a non-governmental patient-driven alliance of patient organisations representing 710 rare disease patient organisations in 63 countries. EURORDIS represents the voice of an estimated 30 million people living with a rare disease in Europe. Follow @eurordis or see the EURORDIS Facebook page. For more information visit: www.eurordis.org Please come to stand 10 to meet members of the EURORDIS team and find out more about key initiatives including Rare Diseases International, Rare Disease Day and the new Rare Barometer survey initiative.

DIA, Switzerland | Space 11

Only DIA advances health care product development around the world by connecting all stakeholders to interdisciplinary insights and innovation in a neutral forum. DIA provides an invaluable platform to collaborate to find new solutions and advance your career, delivering customised learning experiences, and opportunities to build trusted relationships among individuals and organisations that share DIA’s values.

EXHIBITING COMPANIES


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EXHIBITION HALL FLOOR PLAN

POSTER BOARDS

POSTER BOARDS

CROMDALE HALL

26-28 May 2016 - Edinburgh

EURORDISPlateforme Maladies Rares

96 , rue Didot75014 ParisFrance

Tel. +33(1) 56 53 52 10Fax: +33 56 53 52 [email protected]

DIA Europe, Middle East & Africa

Küchengasse 164051 BaselSwitzerland

Tel. +41 61 225 51 51Fax: +41 61 225 51 [email protected]

ECRD 2016E D I N B U R G H

26 - 28 MAY

In Partnership with

16106 PGM NEW - EURORDIS...18.00 – 19.00 Patient Groups Welcome Reception Friday, 27 May 2016...

Documents

Transcript of 16106 PGM NEW - EURORDIS...18.00 – 19.00 Patient Groups Welcome Reception Friday, 27 May 2016...