christel - impact of french national plans for plwpws

8/8/2019 Christel - Impact of French National Plans for PLWPWS

1/16

The impact of National Plans for rare diseaseson the life of people living with PWS

in France

Zalau, Romania,

30 October, 2010

www.eurordis.org

Christel Nourissier General Secretary


2/16

B efore the 1st National plan, and contrary to any other French citizen, people born with PWS in France

did not have access to care

The association Prader Willi France was established in 1996 by 13families because people born with Prader-Willi syndrome had greatdifficulties in obtaining correct diagnosis, and were facing unequalaccess to care (Eurordis Care studies 2002-2008: The voice of 12 000patients*). In consequence most of them died at a very early age (20-25).

Patients had to fight for the marketing autorisation and reimbursementof growth hormone treatment until april 2002.

A study funded by Prader Willi France Cross-cultural comparisons of obesity and growth in PraderWilli syndrome) (2008) O. Dudley, B .

McManus, A. Vogels, J. Whittington & F. Muscatelli, demonstrated thatFrench adults with PWS had significantly higher rates of obesity thanadults in the UK and the USA, but growth in French children with PWSwas similar to the USA and Germany.It showed that clinical management has a greater impact on obesityoutcome in PWS than cultural factors.

*The voice of 12 000 patients www. Eurordis.org


3/16

3 25 February 2009 - Dublin

Main objective of the 1st National Plan for rare diseases in France (2005-2008) :

ensuring equity in the access to diagnosis,treatments and provision of care

To address the lack of knowledge and information among healthprofessionals and patients : lack of diagnosis, late or inaccuratediagnosis.The need for a global strategy for rare disease health care : clinicalpathways were based on individual choice, geographical situation or chance: need for organised specialised pathways

Inequalities in different parts of the French territory in thereimbursement, compensation and access to drugs.Lack of epidemiological data and surveillanceLack of adequate funding for therapeutic innovationsLack of coordination of research projects


4/16

4

The role of patient organisations

The determination of patient organisations and support of Frenchauthorities made a National plan for rare diseases possible.

In 2000, Prader-Willi France was a founding member of Alliance

Maladies Rares, the French umbrella association for rarediseases, and also became member of EURORDIS, the Europeanorganisation. Prader Willi France brings together 655 members in2010.

6000 to 8000 rare diseases speaking with one voice at Nationaland European level were heard by the French authorities.


5/16

5 25 February 2009 - Dublin

The 1st National Plan in France : main strengths

Methodology : Participation of all stakeholders: patient representatives, healthcare professionals, researchers, health authorities, pharmaceutical industry.Independent evaluation by the Haut Comit de Sant Publique

Information : Development of Orphanet database, of a classification and codingfor rare diseases with EC and WHODissemination of information leaflets, websites by associations and centres of referenceSupport for an information helpline (Maladies Rares Info Service)Emergency and Care personal cards

Improvement of access to care : designation of 132 centres of reference after annual call for proposals (2005-2007), and of networks of centres of competenceto provide care at a regional level, on request of patient organisations (call for proposals 2007): pluridisciplinary approach, production of information, clinical

research, clinical trials, prescription of expensive drugs

Production of good practice guidelines for 17 diseases, 2 4 in preparation(PWS guidelines almost ready) : slow process, updating necessary.

Promotion of research : higher budget for longer projects


6/16

6

Designation of Centres of Reference for PWS (2005)

Centres of reference on PWS:To ulo use children h o spital : Pr Math T auber, Dr GwenaelleDine, Dr Emmanuelle Mim o un and a large pluridisciplinary teamParis Necker children h o spital, end o crin o lo gy unit : Pr Michel P o lak

and Dr Graziella Pinto

Paris La Piti Salptrire adult h o spital - Service Nutriti o n : Pr Arnaud Basdevant, Dr Muriel C o upaye, Dr Clia Ll o ret-Linares, Dr Christine P o ito u,Hpital marin dHendaye, respite care f o r adults, transiti o nad o lescents- adults: Dr Denise T huileau, Dr J o seba Jauregi

Centre of reference for rare diseases with psychiatric expressionParis La Piti Salptrire Dr Olivier B o nn o t: psychiatry children andad o lescents


7/16

7

Designation of Centres of competence (2008)

AmiensAngersB esanonB ordeauxB retagne : B rest , Rennes ,

Lorient , Saint- B rieucCaenClermont-FerrandDijonGrenoble/Saint-EtienneLilleLimoges

LyonMarseilleMontpellier NancyNantesNiceRgion ParisienneReimsRouenStrasbourgTours

Pediatry, endocrinology, sometimes psychiatry :limited pluridisciplinary approach


8/16

8

Development of information on PWSaccessible to professionals and families

Centre of reference in Toulouse website : information for professionalsand parents

B ooklets published by Prader Willi France and / with the centres of reference : early management of mouth problems, dietetics,management of behaviour problems, early childhood

Orphanet website:publicati o n f o r pr o fessi o nals : article in Annales dend o crin o lo gie G.Diene, A. P o stel-Vinay, G. Pint o , M. P o lak,d, M. T auber in French (2007)

Article practical genetics S. Cassidy D. Drisc o ll in English

Consensus document for general public in French (2008)


9/16

9

Collecting data on people living with PWS

Centres of reference are responsible for monitoring the diseases:epidemiology, social, educational and family impactA first database was established by the centre of reference inToulouseIs now progressively extended to all other centres

Part of CEMARA, a central data base in Necker hospital in Paris,hosting the data of 51 out of the 132 designated centres of reference : more than 80 000 patients recorded since 2007 with aminimum data set, possibility to extend the database for further studiesCEMARA will be part of the Rare Diseases Platform, Nationalbank for rare diseases data, to be established during the secondNational Plan. RD Platform will determine the common data set tobe collected by all rare diseases reference centres: activity,epidemiology, therapeutic data


10/16

10

The care and emergency card for PWS

People living with PWS can carry their card all the time andpresent, when necessary, one of the 2 parts:emergency and care, for emergency situations in hospitals:

risks o f respirat o ry and cardi o vascular c o mplicati o ns linked t o o besity

Useo

f benzo

diazepines and all respirato

ry-depressing drugs is co

unter-indicatedEmergency c o ntactsPers o nal medical inf o rmati o nWhat t o do in emergency situati o ns

Information and advice : description of the disease and its

causes, management, golden rules for GPs, social workers,families, carers and, most important people with PWSthemselvesCarrying a card helps recognize your disease and live with it


11/16

11

National Protocols for diagnosis and care

National Protocols for Diagnosis and Care (PNDS) are used as abase for reimbursement by the French Social Security system.If included in the PNDS, treatments can be reimbursed withoutspecific marketing authorisation (ex growth hormone for adults).

First prescriptions of expensive treatments (ex: growth hormone,anti narcolepsy drugs, breathing aids during the night) should bedone in a centre of reference or competence

The PNDS for Prader-Willi syndrome

will be available very soon


12/16

12

How to improve the compensation of disabilities ?

Centres of reference are responsible for linking medical care andsocial care so that specific needs of people living with PWS arebetter taken into consideration.In parallel, a 2005 French law has improved financial and socialcompensation of disabilities according to each peoples ownproject for living.

The action of centres of reference is already extremely helpful inproviding families information about their rights, in linking withresidential homes, work places, but they lack necessary humanresources.Sharing of best practices on medical care as well as educationand social care in the field of rare diseases is necessary at

European and international level, i. e. : helplines, respite careservices, therapeutic recreation programmes for children(EURORDIS Rapsody project)


13/16

13

From isolated National plans to 27 plans or strategies in all EU Member States

The European Union strategy:Communication from the European Commission to the Eur o peanParliament, the C o uncil, the Eur o pean Ec o no mic and S o cial C o mmittee andthe C o mmittee o f the Regi o ns : Rare Diseases, Europes challenge

A dopted on November 11th, 2008

Council Recommandation on an action in the field of rare diseasesA dopted on June 9th, 2009National plans or strategies are to be established and implemented inMember States, with 7 pillars : methodology, classification andcodification, research, centres of expertise and EU reference networks,gathering expertise at EU level, empowerment of patient organisationsand sustainability.

preferably by the end of 2013 at the latest.Development of recommendations for their elaboration and indicators inthe framework of the European Project for Rare Diseases National PlansDevelopment (EUROPLAN). 15 National conferences co-ordinated byEURORDIS in 2010


14/16

14

Evaluation of the 1st National Plan in France

After 4 years, an evaluation was conducted by the Haut Comitde sant Publique :

Families consider that their situation has improved, though theyare not always aware of the existence of the Plan, they are aware

of the existence of centres of reference and competence.

Rare diseases are a model for the involvement of patientassociations, for pluridisciplinary care.However, need to better link specialised care to proximity care,

medical to social care, basic research to clinics, to improvetraining of professionals including teachers and social workers,

to develop collection of data, European partnerships, and toensure sustainability in a second Plan.


15/16

15

Some challenges of the second Plan, which isto be announced before the end of 2010

to better link specialised care to proximity care : creation of networks around groups of centres of reference for training allmedical and paramedical professionals, and social workers.Management of complex medical, social or familial cases,development of respite caretherapeutic education of patients and familiesclinical data collection for public health and research:

Ho w to measure the burden o f the diseases o n the families :reduced empl o yment o pp o rtunities, absences o f wo rk o f carers,induced stress and diseases ?

ho w to measure life expectancy and quality o f life impr o vements?Ho w to measure the achievements o f Plans in term o f reducti o n o f health care and c o mpensati o n o f disability c o sts?

More European partnerships for basic and clinical research,European guidelines for medical and social care.


16/16

16

Thank you very much for your attention!With warm regards from children living with PWS

and their siblings in Ile de France

christel - impact of french national plans for plwpws

Documents