Rare Diseases Foundation Céline Hubert Pr Nicolas Lévy

Rare diseases in France 3 millions of people concerned More than 200 patients organizations 1260 diagnostic tests available compared to 7000 rare diseases Two national Health governmental plans launched to improve rare diseases care  

1 st National Rare Diseases Plan 10 main stakes Stake n° 1 : Conduct epidemiological research Stake n° 2 : Caracterize rare diseases specificity Stake n° 3 : Improve patients, health workers and general public knowledges Stake n° 4 : Traine physicians to rare diseases diagnosis Stake n° 5 : Organize screening and improve access to diagnostic testing Stake n° 6 : Improve access to specialized units for optimal quality of care Stake n° 7 : Stimulate orphan drugs development Stake n° 8 : Give optimal support to patients Stake n° 9 : Promote research on rare diseases Stake n° 10 : Develop european and international partnerships 134 excellence centers were approved all over France

Rare diseases research weaknesses Are due to : Large number of diseases Rareness of diseases and weak number of patients Scattering of patients all over France Clinical heterogeneity Collection difficulties of clinical information and biological samples Lack of interest of pharmaceutical companies

2 nd National Rare Diseases Plan French Ministry of Health and French Minstry of research launched the 2 nd plan for rare diseases on the 28 th of February 2011:  47 measures for 3 key stakes Stake A : Reinforce quality of care Stake B : Develop research on rare diseases Stake C : Improve european and international partnerships Main actions stake B: Creation of the rare Disease Foundation Creation of a national rare diseases databasis RADICO project (RAre DIsease Cohorts)

Rare diseases Foundation mission

Mission To improve knowledge of rare diseases To structure and to harmonize To coordinate and to federate To develop and to finance Research initiatives on rare diseases in France

Six main fields of action Improvement of the access to ressources Expertise, people, founds, knowledges National Rare diseases databasis and cohortsClinical trialsResearch on Social and Human SciencesEuropean and International CooperationPublic health indicators and epidemiology

Networking Facilitate access tecnological plateforms Finance research projects Facilitate access to human ressources: employees and ressources finding Rare disease national data bank RADICO project management BAMARA/CEMA RA databank management Excellence centers’ registries and data banks sharing Clinical trials ORPHANDEV: clinical trials support unit Develop partnerships between private companies and public organizations Social Sciences & disability research projects « Patients driven research » projects Psycho- sociological impact of rare diseases evaluation Satisfaction survey, post AMM studies European and International cooperation EUROPLAN Contribution to IRDiRC (International Rare Diseases Research Consortium) E-rare & coordination of research projects Public Health indicators development in rare diseases Evaluation of genotype/phenotyp e correlations, incidence and prevalence estimations Rare diseases costs evaluation Return on investments evaluation

Rare diseases Foundation Management Board

Organization 5 founders (2 votes) 8 qualified people in rare diseases field or Health (1 vote) 1 representative of teaching-researchers President Partners Scientific committees Director and associate director Pr Nicolas Levy Céline Hubert Management board The Rare Diseases Foundation is a non-profit private organization

A unique model of alliance 5 founders

Universities and Hospitals involved

8 qualified people, advisors of the Foundation Pr JP Grünfeld Nephrologist Necker Hospital JM Belorgey ENA alumnus Council of State Dr MG Mattei Geneticist Marseille University Pr FN Gilly Surgeon oncologist Lyon University Pr J Kristeva Psychanalist Philosopher Paris VII University Pr G Tchernia Hematologist 2 nd national plan coordinator Direction team Pr Nicolas Lévy Head of medical Genetics department Marseille University-Hospital Marseille University Rare diseases Foundation Director Céline Hubert Operational Director

On dedicated people per region Profil:  Scientist, physician, pharmacist with knowledge of rare diseases field Mission:  Networking of rare diseases field actors  National rare diseases databasis and RADICO project deployment  Promotion of Foundation calls to projects  Facilitation of access to technological plateforms  Fund raising

Scientific committees In charge of the Foundation scientific policy  Researchers and physicians  All medical specialties involved Operational scientific committee french experts of rare disease 4 meetings/year Operational scientific committee french experts of rare disease 4 meetings/year Scientific committee french and international experts 2 meetings/year Experts committees for projects evaluation, (national & international experts)

Expected benefits ? Improvement of patients care, Improvement of our knowledge, More clinical trials conducted, More projects financially supported, Best practices sharing, Facilitated access to innovative technologies, More linked between academic and private research, …

Financial resources Founders financial support, French Ministry of Research financial support, Grants, Public-private partnerships.

Where we are… Rare diseases Foundation creation First management board meeting Press conference and launch at Science Academy Web site launch: Second management board meeting First scientific committee meeting Team hiring First calls for projects Contacts with potential partners 8 th of February th of March 2012 May 2012 May – June 2012 May 2012 On going 22 nd of February th of February 2012