Eurordis Position on Research Priorities for Rare Diseases

1. Eurordis Position on Research Priorities for Rare Diseases

2. Eurordis(European Organisation for Rare Diseases) • Established in 1997 by patient associations fighting against neuromuscular diseases, HIV/Aids, rare cancers and cystic fibrosis. • Modelled on the National Organization for Rare Disorders – NORD, USA • A coalition of more than 225 associations and National Alliances • From 23 countries (15 EU Member States) • More than 1000 rare diseases • Representing 30 million people living with rare diseases in Europe

3. Eurordis’s missions • To develop a Pan-European network of patient organisations on rare disease and a common European voice • To promote Rare Diseases at European level (policy, awareness) • To advocate for availability of information to those affected by rare diseases • To follow-up on the implementation of European Regulation on Orphan Drugs • To promote research for, and access to, new therapies

4. Eurordis’ direct involvement in EU research The European Network of DNA, Cell and Tissue Banks 5th FP – “Quality of Life and Management of Living Resources” Action line n°14.1 “Infrastructures” Thematic network – N° QLRI-CT-2002-02769 2003- 2005 (1.22 M euros) WhyTo make high quality biological material of Rare Disease patients accessible to the whole scientific community.

5. 12 Biological resources centres (in 8 EU MS) • 3 private partners (IT specialists and 1Biotech. Company) • 1 patients’ organisation (Eurordis) as Project Coordinator www.eurobiobank.org

6. Eurordis Position Paper on Research Priorities for the 7th FP Based on: • French Health Ministry Working Group proposals for research in the framework of the French Rare Disease Plan 2005-2008 Participants: clinicians and scientists working in the field of rare diseases, policy makers, and rare disease patient representatives (Eurordis, Alliance Maladies rares, FMO) Coordination:Institut des Maladies Rares • Eurordis advocacy work between 2002 and 2004 • Eurordis as an Observer in the E-Rare project, a Era-Net project • Eurordis contribution to DG Research consultation on FP7 • Eurordis consultation of 25 patient organisations (EPAC: European Public Affairs Committee)

7. Rare Disease Research Development: a Priority for the 7th FP • An area of research that has to be necessarily developed at the European level • great number of rare diseases • low prevalence (less than 1/2000) • heterogeneity • With horizontal cross-cutting platforms • And vertical disease-specific projects, based on excellence, to be used as models for other rare or common diseases • Keeping a global vision of all research fields in order to ensure rapid reactivity to the development of knowledge and technological tools

8. Tools for EU RD Research • Support smaller size international projects , more relevant than huge networks of excellence and large integrated projects, because of the small number of competent research groups (including SMEs) working on the same topic • Compulsory pluridisciplinarity • Ensure functioning and viability in the long run of technological platforms: a strategic investment for the whole R&D in Europe, and the basic tool to achieve concrete advances in the future

9. Definition of six main strategic orientations for research on rare diseases Prerequisite of any therapeutic advance: 1. Descriptive and analytical epidemiology, natural history of the disease and clinical nosology Taking advantage of the information gathered by patient organisations • development of multidisciplinary networks • cohorts and observatories • management tools for shared data bases 2. Genetic and molecular characterisation Remains to be done for more than 4000 diseases: • mapping and cloning of the disease responsible genes • importance of specialised BioBank networks to collect and make available high quality biological material from RD patients,

10. Definition of six main strategic orientations for research on rare diseases Prerequisite of any therapeutic advance: 3. Pathophysiology About 20% of rare diseases are not of genetic origin. Necessity to understand the mechanisms participating in the development of the disease and of the phenotypes observed in the patients. 4. Improvement of diagnostic performances Enhance the diagnostic performances in terms of delays, reliability and accessibility to improve timely care when there is a demonstrated benefit for patients: • large scale screening projects of gene mutations • development of diagnostic tools and diagnostic applications of nanotechnologies • development of evaluation methods for diagnostic tools • joint projects DG Research/DG Enterprise involving industry development

11. Definition of six main strategic orientations for research on rare diseases 5. Therapeutic research Objective: development of therapeutics for patients living with a rare disease, with a particular focus on children Main sectors: a) Development of innovative devices aimed at alleviating or compensating disabilities linked with the disease b) Development (preclinical et early clinical) of Orphan Medicinal Products (OMP) including specific paediatric formulations • Cell therapy • Gene therapy • Partnerships in the sector of technology engineering to develop symptomatic treatments • Search of chemical molecules of therapeutic interest: research based on physiopathological knowledge, high output molecular screening • Preclinical therapeutic research and proof of concept studies • Joint DG Research/ DG Enterprise/ EMEA projects for funding designated OMP (phase I and II)

12. Definition of six main strategic orientations for research on rare diseases 6. Research in social and human sciences Sociology, economy, history of sciences, law and public health, particularly: • descriptive and analytic research on society and rare diseases - social perception, accessibility to care • public/private scientific co-operation for research and innovation • care practices, daily experience of the diseases, self care, health education • public research and health policies across EU

13. A Necessary Coordination at EU level • Development of a European Research Policy on rare diseases • With a pluri-disciplinary approach • Attracting new researchers in RD field • Ensuring long-term sustainability of new research structures through an active contribution of each Member State • Disseminating new knowledge to patients, health professionals and scientific community

14. Why should Patient Organisations be involved in Research at EU level We believe we have an expertise on : • natural history of Rare Diseases • constitution of cohortes • biological samples donation campains We must play an active role as partners in the Research Networks: • To encourage patient-oriented research aiming at improving quality of life and life expectancy, reducing financial and social burdens • To advise about the structure and the use of the epidemiological databases • To ensure rapid dissemination of results to patients, health professionals and scientific community. • To make innovative research goals clear to all EU citizens

15. Luxembourg 21-22 June 2005 • Organised by Eurordis and its partners, with the support of the European Commission, the Government of Luxembourg, and the French organisation against neuro-muscular diseases AFM. • Conference participants: • Patients, researchers, health professionals, health policy experts, industry • Conference expected outcomes: • Dissemination of results of projects funded by 5thFP and 6th FP. (poster presentations are most welcome, deadline for sending abstracts: April 15th) • A larger forum for discussing the outcomes of the DG Research Workshop. • www.rare-luxembourg2005.org