The impact of National Plans for rare diseases on the life of people living with PWS in France
Christel Nourissier General Secretary

Zalau, Romania, 30 October, 2010

Before 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 13
families because people born with Prader-Willi syndrome had great difficulties in obtaining correct diagnosis, and were facing unequal access to care (Eurordis Care studies 2002-2008: The voice of 12 000 patients*). In consequence most of them died at a very early age (20-25).

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

‡ A study funded by Prader Willi France « Cross-cultural comparisons of


obesity and growth in Prader±Willi syndrome) » (2008) O. Dudley, B. McManus, A. Vogels, J. Whittington & F. Muscatelli, demonstrated that French adults with PWS had significantly higher rates of obesity than adults in the UK and the USA, but growth in French children with PWS was similar to the USA and Germany. It showed that clinical management has a greater impact on obesity outcome in PWS than cultural factors.

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

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 health

professionals and patients : lack of diagnosis, late or inaccurate diagnosis.  The need for a global strategy for rare disease health care : clinical pathways were based on individual choice, geographical situation or chance: need for organised specialised pathways  Inequalities in different parts of the French territory in the reimbursement, compensation and access to drugs.  Lack of epidemiological data and surveillance  Lack of adequate funding for therapeutic innovations  Lack of coordination of research projects
25 February 2009 - Dublin

The role of patient organisations
‡ The determination of patient organisations and support of French
authorities 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 rare diseases, and also became member of EURORDIS, the European organisation. Prader Willi France brings together 655 members in 2010.

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


The 1st National Plan in France : main strengths
‡ Methodology : Participation of all stakeholders: patient representatives, health
care professionals, researchers, health authorities, pharmaceutical industry. ‡ Independent evaluation by the « Haut Comité de Santé Publique »

‡ Information : Development of Orphanet database, of a classification and coding
for rare diseases with EC and WHO ‡ Dissemination of information leaflets, websites by associations and centres of reference ‡ Support 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 competence to 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, 24 in preparation
(PWS guidelines almost ready) : slow process, updating necessary.

‡ Promotion of research: higher budget for longer projects
25 February 2009 - Dublin

Designation of Centres of Reference for PWS (2005)

‡ Centres of reference on PWS: 

Toulouse children hospital : Pr Maïthé Tauber, Dr Gwenaelle Diène, Dr Emmanuelle Mimoun and a large pluridisciplinary team Paris Necker children hospital, endocrinology unit : Pr Michel Polak and Dr Graziella Pinto Paris La Pitié Salpètrière adult hospital - Service Nutrition : Pr Arnaud Basdevant, Dr Muriel Coupaye, Dr Célia Lloret-Linares, Dr Christine Poitou, Hôpital marin d¶Hendaye, respite care for adults, transition adolescents- adults: Dr Denise Thuileau, Dr Joseba Jauregi

‡ Centre of reference for rare diseases with psychiatric expression 

Paris La Pitié Salpètrière Dr Olivier Bonnot: psychiatry children and adolescents


Designation of Centres of competence (2008)

‡ Amiens
Angers Besançon Bordeaux Bretagne : Brest, Rennes, Lorient, Saint-Brieuc Caen Clermont-Ferrand Dijon Grenoble/Saint-Etienne Lille Limoges

‡ Lyon
Marseille Montpellier Nancy Nantes Nice Région Parisienne Reims Rouen Strasbourg Tours

‡Pediatry, endocrinology, sometimes psychiatry : ‡limited pluridisciplinary approach

Development of information on PWS accessible to professionals and families
‡ Centre of reference in Toulouse website : information for professionals
and parents

‡ Booklets 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:  

publication for professionals : article in « Annales d¶endocrinologie » G. Diene, A. Postel-Vinay, G. Pinto, M. Polak,d, M. Tauber in French (2007) Article « practical genetics » S. Cassidy D. Driscoll in English Consensus document for general public in French (2008)


Collecting data on people living with PWS
‡ Centres of reference are responsible for monitoring the diseases: ‡ ‡ ‡
epidemiology, social, educational and family impact A first database was established by the centre of reference in Toulouse Is 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 a minimum data set, possibility to extend the database for further studies CEMARA will be part of the Rare Diseases Platform, National bank for rare diseases data, to be established during the second National Plan. RD Platform will determine the common data set to be collected by all rare diseases reference centres: activity, epidemiology, therapeutic data



The care and emergency card for PWS

‡ People living with PWS can carry their card all the time and 

present, when necessary, one of the 2 parts: ‡ emergency and care, for emergency situations in hospitals:
risks of respiratory and cardiovascular complications linked to obesity Use of benzodiazepines and all respiratory-depressing drugs is counterindicated Emergency contacts Personal medical information What to do in emergency situations

‡ Information and advice : description of the disease and its

causes, management, ³golden rules´ for GPs, social workers, families, carers and, most important people with PWS themselves ‡ Carrying a card helps recognize your disease and live with it

National Protocols for diagnosis and care

‡ National Protocols for Diagnosis and Care (PNDS) are used as a
base for reimbursement by the French Social Security system. ‡ If included in the PNDS, treatments can be reimbursed without specific marketing authorisation (ex growth hormone for adults). ‡ First prescriptions of expensive treatments (ex: growth hormone, anti narcolepsy drugs, breathing aids during the night) should be done in a centre of reference or competence

‡ The PNDS for Prader-Willi syndrome ‡ will be available very soon


How to improve the compensation of disabilities ?
social care so that specific needs of people living with PWS are better taken into consideration. ‡ In parallel, a 2005 French law has improved financial and social compensation of disabilities according to each people¶s own project for living. ‡ The action of centres of reference is already extremely helpful in providing families information about their rights, in linking with residential homes, work places, but they lack necessary human resources. ‡ Sharing of best practices on medical care as well as education and social care in the field of rare diseases is necessary at European and international level, i. e. : helplines, respite care services, therapeutic recreation programmes for children (EURORDIS Rapsody project)

‡ Centres of reference are responsible for linking medical care and


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 European 

Parliament, the Council, the European Economic and Social Committee and the Committee of the Regions : « Rare Diseases, Europe¶s challenge »

Adopted on November 11th, 2008 Adopted on June 9th, 2009

‡ Council Recommandation on an action in the field of rare diseases ‡ National plans or strategies are to be established and implemented in
Member States, with 7 pillars : methodology, classification and codification, research, centres of expertise and EU reference networks, gathering expertise at EU level, empowerment of patient organisations and sustainability. 

preferably by the end of 2013 at the latest.

‡ Development of recommendations for their elaboration and indicators in
the framework of the European Project for Rare Diseases National Plans Development (EUROPLAN). 15 National conferences co-ordinated by EURORDIS in 2010


Evaluation of the 1st National Plan in France
‡ After 4 years, an evaluation was conducted by the « Haut Comité
de santé Publique » : ‡ Families consider that their situation has improved, though they are 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 patient associations, for pluridisciplinary care. ‡ However, need to better link specialised care to proximity care, medical to social care, basic research to clinics, to improve training of professionals including teachers and social workers, to develop collection of data, European partnerships, and to ensure sustainability in a second Plan.


Some challenges of the second Plan, which is to 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 all medical and paramedical professionals, and social workers. Management of complex medical, social or familial cases, development of respite care therapeutic education of patients and families clinical data collection for public health and research:  How to measure the burden of the diseases on the families : reduced employment opportunities, absences of work of carers, induced stress and diseases ?  how to measure life expectancy and quality of life improvements?  How to measure the achievements of Plans in term of reduction of health care and compensation of disability costs? More European partnerships for basic and clinical research, European guidelines for medical and social care.


Thank you very much for your attention! With warm regards from children living with PWS and their siblings in Ile de France


Sign up to vote on this title
UsefulNot useful