PERSPECTIVES FROM RARE DISEASES PATIENTS · 2019. 12. 1. · 2 EURORDIS‐Rare Diseases Europeis a...

Registries For Rare Endocrine Conditions Workshop13th December 2019, Glasgow

DrVirginie Bros‐Facer, EURORDIS Scientific Director

PERSPECTIVES FROM RARE DISEASES PATIENTS

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EURORDIS‐Rare Diseases Europe is a unique, non‐profit alliance of over 800 rare disease patient organisations from 70+ countries that work together to

improve the lives of the 30 million people living with a rare disease in Europe.

EURORDIS‐Rare Diseases Europe is a unique, non‐profit alliance of over 800 rare disease patient organisations from 70+ countries that work together to

improve the lives of the 30 million people living with a rare disease in Europe.

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By connecting patients, families

and patient groups, as well as by

bringing together all stakeholders and mobilising the rare disease community,

EURORDIS strengthens the patient voice and shapes research,

policies and patient services.

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869Member patient organisations

71 countries (28 EU countries)

44 National Alliances of rare

disease patient organisations

72 European Federations for specific rare diseases2,500

Outreach to over

patient groups

440Over

volunteers

1997Founded in

40+Staff members with offices in Paris, Brussels and Barcelona

EURORDIS works across borders and diseases to improve the lives of people living with a rare disease

Our mission

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Advocating, empowering &

engaging patients in the

areas of:

Healthcare

Social care

Research

Treatments

Diagnosis

Rare disease policy

RD Patient registries: an advocacy priority

since 2006

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EURORDIS‐NORD‐CORD Joint Declaration of 10 Key Principles for Rare Disease Patient Registries

Key instruments for advancing knowledge, research, care and treatments for RD

First consensus into an international declaration by RD patient groups

Underscore the importance of patient involvement in successful establishment and long‐term maintenance of RDPR

Evidence that patient groups are very active and capable in this role

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1. Patient Registries should be recognised as a global priority in the field of Rare Diseases.

2. Rare Disease Patient Registries should encompass the widest geographic scope possible.3. Rare Disease Patient Registries should be centred on a disease or group of diseases rather than a therapeutic intervention.

Core objectives of ERNs

EC Support for new ERN rare disease registries + calls within EJP RD

EMA Registry Initiative


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4. Interoperability and harmonization between Rare Disease Patient Registries should be consistently pursued.

5. A minimum set of Common Data Elements should be consistently used in all Rare Disease Patient Registries as those defined within the EUCERD JOINT ACTION WP8.

6. Rare Disease Patient Registries data should be linked with corresponding biobank data.

RD‐Connect

Priority for JRC European Platform

RD‐Connect

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7. Rare Disease Patient Registries should include data directly reported by patients along with data reported by healthcare professionals.

8. Public‐Private Partnerships should be encouraged to ensure sustainability of Rare Disease Patient Registries.

9. Patients should be equally involved with other stakeholders in the governance of Rare Disease Patient Registries.

10. Rare Disease Patient Registries should serve as key instruments for building and empowering patient communities.

Development and democratisation of PROMs (priority activity for EMA registry initiative in collaboration with PO)

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RD Patient registries: an advocacy prioritysince 2006

EURORDIS‐NORD‐CORD Joint Declaration of 10 key principles for RD patients registries (2012) https://download2.eurordis.org/documents/pdf/EURORDIS_NORD_CORD_JointDec_Registries_FINAL.pdf

Contribution to the EUCERD Core Recommendations on RD Patient Registration and Data Collection (2013)

Contribution to the CEG‐RD Recommendation on Ways to Improve Codification for RD in Health Information Systems (2014)

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EPIRARE Patient Survey (2012/2013):

• Specifically targeted at patients to gather their perspectives and expectations

• On line survey proposed in 11 languages, over 3,000 questionnaires analysed covering 500 diseases

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EPIRARE Patient Survey (2012/2013):

Patients have a clear vision of the added value and benefits of a comprehensive European approach to Rare Disease Registers

Patients demand that the legal aspects regarding Rare Disease Registers development be regulated at EU level

Patients demand a EU platform primarily funded publicly involving patients in all aspects of Governance

Patients empowerment and capacity building are needed for adequate and full involvement of patient representatives in the governance and activities of rare disease registries

ePAG Research and RegistriesWorkingGroup

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OVERALL REMIT:

• Inform, guide and support ePAGs work on research and registries activities for ePAG Patient Advocates.

• Bring together the collective understanding of relevant ERN clinical and basic research topics and patient registries to inform the overall research & registry strategy and its implementation in terms of contents and priorities.

• Exchange between group members and registry expertsworking and/or involved in RD research activities.

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OBJECTIVES:• Support their respective ERNs on the mapping exercise on research studies, infrastructures and opportunities and identify gaps in terms of needs and priorities within the different RD groupings and networks;

• Inform the ePAG research and registry strategy by identifying and prioritizing ePAGPatients Advocates research needs, questions and challenges;

• Exchange and support fellow ePAG Patient Advocates’ to tap into their experience and engage as active and equal partners in the different ERNs research and registry activities.

• Launched in October 2018

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ACTIVITIES ‐Quarterly Teleconferences:

• Practical Guide to develop a Patient registry by Avril Kennan, MRCG (Medical Research Charities Group; Sept 2018): bit.ly/PatRegGuide

• Recommendations for Improving the Quality of Rare Diseases Registries by Yllka Kodra, ISS + related Infographics highlighting key recommendations by GulcinGumus, EURORDIS

• 1.Recommendations to create Rare Disease Registries: https://www.youtube.com/watch?v=_5YmhQUo_bE• 2. Data quality in Rare Disease Registries: https://www.youtube.com/watch?v=R8r_c‐hsfwY


GG4GG5

GG4 It could be nice to add the videos that we produced based on the recommendations from this articleGulcin Gumus, 11/12/2019

GG5 I changed the animation.Gulcin Gumus, 11/12/2019

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RECOMMENDATIONS TO CREATE RARE DISEASE REGISTRIES

DATA QUALITY IN RARE DISEASE REGISTRIES


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ACTIVITIES ‐Quarterly Teleconferences: • EuRRECa registry project by Syed Faisal Ahmed • Overview of current strategy of ERN ResearchWG by Luca Sangiorgi, ERN BOND• Presentation on EJP RD, general overview and detailed information on relevant activities• Implementing FAIR principles in Patient Registries, Marco Roos, LUMC

• Discuss and plan open short series of webinars to more widely share knowledge on existing initiatives on registries

The first one (the recording https://www.youtube.com/watch?v=kbtsZxdGKhY) took place in June with 3 panelists:1) Julian Isla (EURORDIS volunteer and founder of Foundation 29) presented the tool (Health 29) developed within his not‐for‐profit foundation, especially in the context of the specific application for the Duchenne Data Platform;

2) George Reynolds (RareUrn) presented a model to facilitate research and industry cooperation/collaboration in rare disease data collection highlighting challenges and potential solutions.

3) Luca Sangiorgi (ERN‐Bond and Chair ERN research working group) talked about the work and strategy for ERN registries.

Thank you for your attention

Tel: +33 1 56 53 52 13virginie.bros‐[email protected]

PERSPECTIVES FROM RARE DISEASES PATIENTS · 2019. 12. 1. · 2 EURORDIS‐Rare Diseases Europeis a...

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