Second French National Plan for Rare Diseases unveiled on Rare Disease Day | www.eurordis.org

Second French National Plan for Rare Diseases unveiled on Rare Disease Day

A message of hope for patients in France and all over Europe

French rare disease patients had much to celebrate on Rare Disease Day 2011 as the long-awaited second French National Plan for Rare Diseases (PNMR II) was officially launched jointly by the French Ministers for Research and Health on that day. After an 18-month consultation process, the new national strategy has been allocated a budget of 186 million euros for the period 2011-2014.

The new Plan has been organised into three main overarching themes, each containing a series of detailed measures and actions in order to facilitate rapid and efficient implementation. The first priority is to better the quality of patient care by improving coordination of research, diagnosis, medical and social care, through rare disease healthcare pathways. In order to do this, diagnosis and care will be organised into vertical networks bringing together laboratories, national centres of reference and regional centres of competence, and linking them with medical care and social services at local level, closer to the patient. These networks will regroup diseases such as metabolic, neuromuscular, endocrinal, cardiovascular, dermatological, sensory disorders and others.


Christel Nourissier talks about the 2nd French National Plan

“After the Plan’s implementation, not one single patient living with a rare disease in France should be denied access to diagnosis and care at an expert centre,” explains EURORDIS Secretary General, Christel Nourissier who represented patients in the consultation process and took an active part in the elaboration of the PNMR II. “This organisation of expert centres by group of diseases within comprehensive healthcare pathways is an innovative approach, which can become a model for European reference networks to cover all rare diseases in the future.”

Other actions include: better recognition and funding of the activities carried out by centres of expertise; development of national protocols for diagnosis and care; extension of neonatal screening; monitoring of access to off-label orphan drugs; evaluation and organisation of the needs of specific case managers for complex disabilities at regional level; linking specialised care and social services; developing respite care and support to carers; as well as training health professionals. One of the biggest achievements of the new Plan is the organisation of data collection into a national data bank that will gather a minimum data set and develop interoperability of all available clinical data.

The second axis, developing rare disease research, principally involves the creation of a National Foundation to coordinate basic, clinical, translational and social research. The aim of this Foundation is to bring together Orphanet, E- Rare and the national database with public-private partnerships.

The PNMR II has an important international dimension with activities geared to increasing European and international cooperation. Measures include: sharing expertise via European reference networks using telemedicine, promoting the use of common coding and classification, exchanging best practices for diagnostics tests, monitoring access to off-label medicinal products, working towards a common EU helpline number and promoting exchange between patients’ groups in Europe and collaborating countries in the Mediterranean region, Middle East and Africa. The new Plan will support three international rare disease projects: E-Rare, to encourage research at national level; ECRIN, to facilitate multinational trials; and BBMRI, to collect biological samples.

Although this new Plan draws lessons from the first French National Plan - placing more emphasis on linking at regional level, and including tangible measures, such as the creation of a national biobank and of a national foundation for rare disease research - patient representatives worry the budget is not sufficient to fulfil these ambitious objectives.

PNMR II will be closely monitored by a multi-stakeholder management committee that includes patient representatives. Its governance will be secured by an inter-ministerial general secretary responsible for liaising with regional health authorities – something French patient advocates have been asking for repeatedly, based on the poor performance of the first National Plan in this respect.

“We have worked very hard for this Plan, having constantly in mind, not only rare disease patients in France but, all our friends across Europe,” says Christel Nourissier. “It is not perfect but as always, we will share successes and failures.”

All in all, the PNMR II is still the most sophisticated rare disease strategy in Europe and a pioneering reference in this field. Its total budget represents an increase of 86 million euros over the first Plan.

Political support and the budget for the Plan’s implementation was assured by the French Minister for Employment and Health, Xavier Bertrand, during his visit to EURORDIS and the Rare Disease Platform in Paris on 3rd March 2011.


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This article was first published in the May 2011 issue of the EURORDIS newsletter

Author: Paloma Tejada
Photo credits: © EURORDIS


Page created: 13/04/2011
Page last updated: 03/05/2011
Second French National Plan for Rare Diseases unveiled on Rare Disease Day | www.eurordis.org