Rare Diseases Foundation Céline Hubert Pr Nicolas Lévy .
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Transcript of 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
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)
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
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
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