Catherine Berens, PhD Personalised Medicine DG Research & Innovation European Commission

1. The place of rare diseases in the 7th EU Framework Programme for Research and Technological Development Catherine Berens, PhD Personalised Medicine DG Research & Innovation European Commission

2. Overview • Research on rare diseases in the EU FP7 • International cooperation: IRDiRC

3. Rare Diseases: history of support in FP Directorate General for Research = European public research funding body Framework Programme • European value added • Complementation of private sector-funded research RARE DISEASES EU Investing in research on rare diseases (RD) for more than 2 decades FP5: 47 RD-relevant projects, € 64 million ftp://ftp.cordis.europa.eu/pub/lifescihealth/docs/reprint_rec48300_rare_dis_060207.pdf FP6: 59 RD-relevant projects; global budget: €230 million http://cordis.europa.eu/lifescihealth/major/rare-diseases-projects-1.htm

4. FP7: Health theme • Improving the health of European citizens • Increasing the competitiveness of European health-related industries • Addressing global health issues, including emerging epidemics General objectives of FP – Health collaborative research: Specific objectives of FP: • Translational research in rare diseases Topics mentioned in the work programmes of the calls for proposals

5. RD in FP7 Health Theme • FOCUS: will be on Europe-wide studies of natural history, pathophysiology and on development of preventive, diagnostic and therapeutic interventions. This sector will include rare Mendelian phenotypes of common diseases. • EXPECTED IMPACT: this area should help identifying and mobilising the critical mass of expertise in order (i) to shed light on the course and/or mechanisms of rare diseases, or (ii) to test diagnostic, preventive and/or therapeutic approaches, to alleviate the negative impact of the disease on the quality of life of the patients and their families, as appropriate depending on the level of knowledge concerning the specific (group of) disease(s) under study.

6. Submission and evaluation Basic principles • annual calls for proposals • eligibility (scope, partners, funding limits, deadline) • evaluation by panels of independent experts • overseen by independent observers • 3 criteria: • Science & Technology excellence • Implementation & Management • Potential Impact • feedback: Evaluation Summary Reports (ESRs)

7. RD in FP7(overview Area 2.4.4) Clinical dvpt ODs Natural history Preclinical dvpt ODs Pathophysiology Coord. BIO-NMD € 5,6 M TREATRUSH € 6M PADDINGTON € 5,8 M EFACTS € 6 M RDCVF € 2,6 M Neurology LeukoTreat € 6 M MEFOPA € 5,8 M FIGHT-MG € 6 M NIMBL € 5,4 M Pemphigus € 3 M EUROTRAPS € 3 M Immunology E-Rare-2 € 2 M MABSOT € 6 M RareDiseasePlatform € 0.95 M EURO-PADnet € 3 M Euradrenal € 3 M PRATH € 1,8 M Cure HLH € 3 M ALPHAMAN € 5,9M Metabolism EUCLYD € 3 M AIPgene € 3,3 M EUCILIA € 3 M Disorders of urogenital tract EUNEFRON € 3 M EuroDSD € 3 M Pneumology eurIPFnet € 3 M IMPACTT € 5,4M €110 M, 27 projects Dermatology GENEGRAFT € 4,9M

8. RD in FP7 Rare Diseases  necessary keyword to identify relevant topics in the work programme Other parts of the programme: other potential entry points for submission of proposals relevant to RD, e.g. • HEALTH-2007-1.2-6: High throughput molecular diagnostics in individual patients for genetic diseases with heterogeneous clinical presentation • HEALTH-2007-1.4-5: Gene therapy tools targeting the central nervous system • HEALTH.2010.2.4.1-5: Structuring clinical research on rare cancers in adults • HEALTH.2011.1.4-1: Regenerative medicine clinical trials • HEALTH.2011.2.4.1-1: Investigator-driven treatment trials for rare cancers Portfolio November 2011: 65 projects with EC support around € 313 million http://ec.europa.eu/research/health/medical-research/rare-diseases/index_en.html

9. RD in FP7 Current call for proposals Health Theme € 108 million earmarked for the following areas: • Support for international rare diseases research • Clinical utility of -omics for better diagnosis of rare diseases • Databases, biobanks and clinical ‘bio-informatics’ hub for rare diseases • Preclinical and/or clinical development of substances with a clear potential as orphan drugs • Observational trials in rare diseases • Best practice and knowledge sharing in the clinical management of rare diseases

10. Rare diseases: strengthening EU/US/international collaboration Recognised need for more international cooperation in research on rare diseases: to align taxonomy, diagnosis and treatment options to optimise scattered and scarce resources (patients, experts, budgets) with a view to accelerate the development of new diagnostic and therapeutic options Timely reflection in view of: The set up of similar research programmes by research funders throughout the world -omics technologies bring new opportunities and are getting ripe to demonstrate their clinical utility Rare diseases can be seen as a model for developing personalised medicine approaches High number of orphan drug designations that need further research for reaching the patients (« crossing the valley of death ») Cooperation: context

11. Cooperation: areas in need Establish and provide access to harmonised data/samples: Patient registries Biobanks  “Knowledge management” system to underpin research, clinical care and public health aspects (incl. private-public partnerships) Molecular and clinical characterisation of RD Classification and standard terminology Natural history Ontology of rare diseases + cross-referencing to animal diseases ontology Translational/preclinical research Predictive, validated in vitro models and in vivo animal models Clinical research Validated biomarkers and surrogate end-points New diagnostics and therapies “Repurposing” of drugs

12. Cooperation: IRDiRC Setting up an International Rare Disease Research Consortium (IRDiRC)Co-operation at international level to stimulate, better co-ordinate and maximise output of rare disease research efforts around the world

13. Cooperation: IRDiRC Goals of IRDiRC 200 new therapies for rare diseases by 2020 Means to diagnose most rare diseases by 2020

14. How will IRDiRC work? • Any research funder with programmes supporting IRDiRC objectives with more than $ 10 million US over a 5-year period can join (template letter of intent available at IRDiRC website) • All research funders will follow their normal modes and rules for their implementation whereas all funded projects should adhere to and implement a common framework of IRDiRC policies and guidelines • The research funders will seek complementarities and synergies between their respective programs in view to avoid funding overlaps • Scientists in the funded research projects will be networked via working groups dedicated to specific aspects of rare disease research e.g. sequencing, natural history, biomarkers, clinical research etc.

15. IRDiRC Governance structure Executive Committee Scientific Committees Sequencing Characterisation Diagnostics “Horizontal” Therapies Working Groups Sequencing Ontologies Model systems Clinical Etc. Registries Natural history Biomarkers • 1 representative per funding body • 1 representative per group of funders (accumulative funding) • the chairs of the Scientific Committees 15 members with balanced representation of scientists, patients, industry, etc. Representatives of funded projects

16. IRDiRC Governance structure • Executive Committee • Representatives of funding bodies contributing to IRDiRC • Key roles : adopts IRDiRC policies and guidelines, coordinates research funding strategies, decides composition of Scientific Committees • Scientific Committees (Diagnostics/Horizontal Therapies) • 15 members with balanced representation of stakeholders in each Scientific Committee with the members serving in their personal capacity • Key roles: proposes research priorities for consideration by the Executive Committee, assesses progress made by funded research, agrees on standard operating procedures, standards, etc. • Working groups • Representatives of all research projects contributing to IRDiRC within scope of the working group • Key roles: ensures synergies among funded research, develops and proposes standards supporting and enabling maximum use of data/research results generated

17. IRDiRC Next steps • Setting up 3 Scientific Committees • Nomination by funding bodies, associations, learnt societies, research organisations, of one person to one of the three Scientific Committees • Nominationperiod: 1 November – 15 December 2011 • Nomination form available at IRDiRC website • Decision on composition by Executive Committee in January 2012 • Setting up Working Groups • Executive Committee members identifies names of projects (funded from 2010 forwards) and their representatives for each working group by 1 January 2012 • Policy Document • Consolidation and consultation of IRDiRC policies and guidelines • More information on IRDiRC http://ec.europa.eu/research/health/medical-research/rare-diseases/irdirc_en.html

18. THANK YOU FOR YOUR ATTENTION! catherine.berens@ec.europa.eu