Diapositive 1 - France in the United Kingdom

yokeenchantingBiotechnology

Sep 29, 2013 (4 years and 12 days ago)

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Setting
Orphan

Diseases


& CT in
France :


The Rare
Diseases

Foundation
, a
new structure of coordination


Céline Hubert

Operational

Director


www.fondation
-
maladiesrares.org





Rare diseases in France

3 millions of people affected

More than 200

patients organizations

>1500

diagnostic tests available
as compared to 7000 rare diseases

65 drugs with orphan designation
are available in France and
75 drugs
with an indication in a rare disease without orphan designation


Rare diseases in France


Alliance of all rare diseases actors



Two national Health governmental plans

launched to improve rare
diseases care


2005
-
2008


2011
-
2014


1
st

National Rare Diseases Plan

10 main stakes

Stake n
°

1 : Conduct epidemiological research

Stake n
°

2 : Characterize rare diseases specificity

Stake n
°

3 : Improve patients, health workers and general public knowledge


Stake n
°

4 : Train 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
centres

were approved

all over France

Rare diseases research weaknesses

Are due to :

Large number of diseases

Rareness of diseases and low number of patients : small cohorts

Scattering of patients all over geographical zones

Clinical heterogeneity

Difficulties in collecting clinical
informations

and biological
samples

«Lack of interest» of pharmaceutical companies

Rare
diseases

CT
landscape

Source:
Leem
, Place
de la France dans la Recherche Clinique Internationale
-

Enquête
2010



Number

of patients
included

per
study

in 2010

Rare
diseases

CT
landscape

Source:
Leem
, Place
de la France dans la Recherche Clinique Internationale
-

Enquête
2010



France

UK

Germany

Spain

Italy

Scandinavia

Rhumatology


Rare
diseases


Infectiology


Neurology


Cardiovascular

&
Metabolism


Oncology

Number


of
study

Studies

distribution by country in 2010

Rare diseases research actors needs
in France

M
ethodological support
(trial design, choice of the primary endpoint, statistical
hypothesis validation, …)

R
egulatory support

P
harmaceutical partner finding

Logistical support
to facilitate patients enrollment

Results analysis


2
nd

National Rare Diseases Plan

French Ministry of Health and French Ministry 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 Diseases Foundation


Creation of a national rare diseases databases


RaDiCo

project (
Ra
re
Di
sease
Co
horts)

The Rare Diseases Foundation

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

Created

on the 6
th

of
February

2012

Mission and activities

Improve the access to resources

-
Expertise

-
Technology

-
People

-
Founds

Facilitate early stages clinical
trials

-
Methodological support

-
Business development opportunities
detection

Promote research on Social and
Human Sciences

-
Sociology

-
Psychology

-
Economics

-
Ethics…

Facilitate the deployment of
National Rare diseases
databasis

and cohorts

-
BNDMR (National Databank for RDs)

-
RaDiCo

(Rare Diseases Cohorts)

-
Registries

Contribute to Public health
policy

-
Epidemiology

-
Orphan drugs policy

-
University education on rare diseases

Cooperate at a European and
International level

-
IRDIRC

-
RD
-
Connect

Organization

5
founders

(2 votes)


8
qualified

people in rare
diseases

field

or
Health

(1 vote)


1
representative

of

teaching
-
researchers

President

Partners

Scientific

committee

Director

and
associate

director

Pr Nicolas Levy

Céline Hubert

Management
board

The Rare
Diseases

Foundation

is

a non
-
profit
private

organization

Management
b
oard

Founders

Qualified

personalities

Pr JP
Grünfeld

JM
Belorgey

Dr MG Mattei

Pr FN Gilly

Pr J Kristeva

Pr G
Tchernia

D
r A Cambon

Thomsen

Pr JJ
Cassiman

Scientific committees


In charge of the Foundation scientific policy


Researchers and physicians


All medical specialties involved




Operational

scientific committee

10
-
12
french

experts

of rare diseases

4 meetings/year

Scientific committee

25
-
30 French and international experts

2 meetings/year

Experts committees for
projects evaluation,
(national &
international experts)

A multidisciplinary scientific committee


Pr
Catherine Boileau,
Genetics
,
hôpital Bichat, Université Denis Diderot,
Paris
-

President


Dr

Nathalie Cartier
-
Lacave
,
Neurosciences,
hôpital St Vincent de Paul, Université Paris Descartes,
Paris


Pr
Pierre
Clavelou
,
Neurology
,
CHU Gabriel
Montpied
, Université d’Auvergne, Clermont
-
Ferrand



Dr Dominique
Daegelen
,
Genetics
,
Genomics

and
Bioinformatics

Institut, Paris





Pr Thierry
Frebourg
,
Genetics

and
Oncology
,
Université de Rouen, CHU de
Rouen


Pr
Eric

Hachulla
,
Internal

Medicine
,
Université de Lille 2, CHRU de
Lille


Pr
Albert
Hagège
,
Cardiology
,
Hôpital Européen Georges Pompidou, Université Paris Descartes,
Paris


Pr
Didier Lacombe
,
Genetics
,
Hôpital Pellegrin, Université de Bordeaux Segalen,
Bordeaux


Pr Jean
-
Louis Mandel
,
Genetics
,
Hôpitaux

Universitaires de Strasbourg, Université de Strasbourg


Pr Yann
Péréon
,
Neurology
,
CHU de Nantes, Université de
Nantes


Pr

Pierre

Ronco
,
Nephrology
,
Hôpital

Tenon,

Université Pierre et Marie Curie,
Paris


Pr José
-
Alain Sahel
,
Ophtalmology
,
Hôpital des Quinze
-
Vingts
, Université Pierre et Marie
Curie


Pr
Alain Taieb,
Dermatology
,
Hôpitaux Saint André et Pellegrin
-
enfants, Université de
Bordeaux


Pr
Maité
Tauber
,
Paediatrics
,
CHU de Toulouse, Université de Toulouse, Toulouse



Pr
Patrick
Edery
,
G
enetics
,
Université de Lyon, Hôpital Femme Mère Enfant,
Lyon


Pr Alain Fischer
,
Immunology
,
Hôpital Necker, Université Paris Descartes,
Paris


Pr
Pierre Le

Coz
,
Ethics
,
Université
AMU, Marseille


Pr
Jean
-
Paul

Moatti
,
Economics
, Université AMU, Marseille


Pr
Jacques Beckmann
,
Genetics
, CHU Vaudois
, Université de
Lausanne, Suisse


Pr Yves
Pirson
,
Nephrology
, Cliniques Universitaires
Saint
-
Luc
, Louvain, Belgique


Pr Francesco Palau,
Genetics
, CHU de Valence, Espagne


Pr Katherine High,
translational

medicine
, Université de Pennsylvanie, Etats
-
Unis


Pr Maria Grazia
Rancarolo
,
Institute of Gene
Therapy
,
Ospedale

San
Raffaele
, Milano, Italie


Pr Abdelaziz
Sefiani
,
Genetics

and
Immunology
, Université de Rabat, Maroc


Pr

Alexis Brice
,

Neurogenetics
,
hôpital de la Pitié
-
Salpêtrière, Université Pierre et Marie Curie, Paris


Pr

Jamel

Chelly
,
Genetics
,
hôpital Cochin, Université Paris Descartes, Paris


Pr Pascale De
Lonlay
,
Metabolic

diseases
,
hôpital Necker, Université Paris Descartes, Paris


Pr Jean
-
Yves
Scoazec
,
Anatom
o
-
pathologist
,
Hôpital Edouard Herriot, UCB, Lyon



A
multidisciplinary

scientific

committee

Universities

and
Hospitals

involved

One dedicated person per region

Profile:


Scientists, physicians, pharmacists with knowledge of
rare diseases field

Missions:


Landscape and needs in RD research


Networking of rare diseases field actors


National rare diseases database and RADICO project
deployment


Promotion of the Foundation calls to projects


Facilitation of access to technological platforms


Identifying the potential clinical trials


Fund raising

Mission and activities

Improve the access to resources

-
Expertise

-
Technology

-
People

-
Founds

Facilitate early stages clinical
trials

-
Methodological support

-
Business development opportunities
detection

Promote research on Social and
Human Sciences

-
Sociology

-
Psychology

-
Economics

-
Ethics…

Facilitate the deployment of
National Rare diseases
databasis

and cohorts

-
BNDMR (National Databank for RDs)

-
RaDiCo

(Rare Diseases Cohorts)

-
Registries

Contribute to Public health
policy

-
Epidemiology

-
Orphan drugs policy

-
University education on rare diseases

Cooperate at a European and
International level

-
IRDIRC

-
RD
-
Connect

To understand & better characterize

National Rare Diseases databases


Coordinator: Pr Paul
Landais


Minimum data set for any patient affected


Epidemiological databases



RaDiCo

project


Coordinators: Pr Serge
Amselem
, Pr
Annick

Clément


Prospective cohorts


Facilitate patients enrollment in clinical trials


Natural history understanding



A common information system :
ISy
-
Rare



www.isyrare.fr



Facilitate the deployment of National Rare diseases
databasis and cohorts

-
BNDMR

-
RaDiCo

-
Registries

To Support research and development

High throughput sequencing and Rare Diseases


First call


May 2012




16 projects selected and financed



Second call


September 2012




42 projects received for review


Generation & exploration of Animal models


Call expected to be launched by the end of the year


Partnership with technological platforms (sequencing, proteomics, metabolomics, animal models….)



in
progress


Close collaboration with all clinical research main actors to draw rare diseases research funding
landscape



Improve the access to
ressources

-
Expertise

-
Technology

-
People

-
Founds

Call
for
projects

Facilitate clinical research


Collaboration with F
-
Crin to promote clinical research in
rare diseases field

The French Clinical Research Infrastructures Network.

Dr

J.
Micallef

Facilitate early stages in setting up of clinical trials

-
Methodological support

-

Reglementary

affairs

-
Business development opportunities


Methodological support


Statistical support


Regulatory support


Protocol writing


Patients enrollment


Data analysis and publication


B
eyond
the clinical and biological
realities :

to study the impact of living with a rare disease

First call for projects ‘Social and Human Science & rare diseases ’
-

Decembrer 2012






3 PhD scholarships ‘Social and Human Science & rare diseases ’
-

January 2013



Promote research on Social and Human Sciences

-
Sociology

-
Psychology

-
Economics

-
Ethics…

640 k


International cooperation

Rare Diseases Foundation has been selected as a partner



«Support
-
IRDiRC
»
(‘The International Rare Diseases Research Consortium’)


Obj

: To provide the organizational support to the implementation of the
IRDiRC

in close collaboration with the
European Commission, the NIH, research funding agencies from Member States and Associated Countries and from
other third countries involved, as well as with relevant research projects supporting
IRDiRC

objectives.





RD
-
Connect
(‘An integrated platform connecting registries,
biobanks

and clinical bioinformatics for rare
disease research’)


Coordinator :
Pr.
Hanns

Lochmuller
.



Obj

: To contribute to the integrated, user
-
friendly RD
-
Connect platform, built on efficient informatics concepts already
implemented in international research infrastructures for large
-
scale data management, will provide access to federated
databases/patient registries,
biobank

catalogues, harmonized
-
omics

profiles and cutting
-
edge bioinformatics tools for
data analysis.


Dr S. Aymé

Cooperate at the European and International level

-
IRDIRC

-
RD
-
Connect

For better management

Better describe
in collaboration with Public health Institute of Research


Consolidated data for a optimal national research and care organization


Support needs in the context of a third national Rare Diseases Plan


Creation of a group of
pharma

& biotech companies to discuss orphan drugs policy needs


Better know


Creation of a dedicated education degree
in collaboration with Universities


Academic year 2013
-
2014

Contribute to Public health policy

-
Epidemiology

-
Orphan drugs policy

-
University education on rare diseases

Expected benefits for academic teams

Improvement of patients care,

Improvement of our knowledge,

Methodological support for clinical trials design in small populations,

More clinical trials conducted,

More projects financially supported,

Best practices sharing,

Facilitated access to innovative technologies,

More and improved links between academic and private research,




Financial
resources

Founders

:
AFM
, AMR,
Universities
,
University
-
Hospitals
, Inserm,

French
Ministry

of
Research
,

French
Ministry

of
Health
,

Grants,

Public
-
private

partnerships
.

A
cademic

/
Institutional

partners

Our
Private

partners

Expected

benefits

for
private

companies


Business
D
evelopment

opportunities

Methodological

support for
clinical

trials design in
small

populations

Knowledge

on rare
diseases

field

and
link

to french teams
(
scientists

and
clinicians
)

Access to
analysis

issued

from

the ‘National
R
are
Diseases

Database

(
under

construction)

Possibility

to support a
research

project

on
specific

thema
/
disease

in
partnership

with

the
Foundation

Image/communication in France and Europe



www.fondation
-
maladiesrares.org