Rare Diseases Foundation

Céline Hubert

Pr Nicolas Lévy

www.fondation-maladiesrares.org

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

2005-2008

2011-2014

1st 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

2nd National Rare Diseases Plan

French Ministry of Health and French Minstry of research launched the 2nd

plan for rare diseases on the 28th 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 ressourcesExpertise, people, founds, knowledges

National Rare diseases databasis and cohorts

Clinical trials

Research on Social and Human Sciences

European and International Cooperation

Public 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/CEMARA 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 LevyCéline 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 GrünfeldNephrologist

Necker Hospital

JM BelorgeyENA alumnus

Council of State

Dr MG MatteiGeneticist

Marseille University

Pr FN GillySurgeon oncologist

Lyon University

Pr J KristevaPsychanalistPhilosopher

Paris VII University

Pr G TcherniaHematologist

2nd national plan coordinator

Direction team

Pr Nicolas LévyHead of medical Genetics departmentMarseille University-HospitalMarseille UniversityRare diseases Foundation Director

Céline HubertOperational 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 committee10-12 french experts

of rare disease4 meetings/year

Scientific committee 25-30 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: www.fondation-maladiesrares.org

Second management board meeting

First scientific committee meeting

Team hiring

First calls for projects

Contacts with potential partners

8th of February 2012

28th of March 2012

May 2012

May – June 2012

May 2012

On going

22nd of February 2012

29th of February 2012

29th of February 2012