1. ¨ Dr Alain Garcia General Secretary of the Rare Diseases National Plan 2011-2014 2011-2014 The second National Plan for Rare Diseases in France 2011-2014 23 th January 2012 Oslo

2. ¨ The first National Plan 2005-2008 : the setting of foundations The Plan acknowledged the specificity of rare diseases and developed information on rare diseases for patients, health professionals and the general public Improved access to care for patients and quality of treatment: 632 centres of expertise were designated in public hospitals, 131 at national level, called reference centres, networking with 501 centres at regional level, called competence centres. Supported early availability of orphan medicinal products and compassionate use Provided specific funding for research on rare diseases and created a Rare Disease Institute for coordinating research After evaluation, 200 M were spent, 100 M for permanent support to centres of reference, 40 millions for research.

3. ¨ Consolidates previous achievements : Simplifies the designation and evaluation process of the centres of reference (indicators of activity) Increases the use of Orphanet Aims at covering in a step-wise approach all rare disease patients, including those in the process of seeking a diagnosis, or when a final diagnosis is not possible : Better lisibility and access to diagnosis, care and social services Improved quality : National Protocols for Diagnosis and Care for diseases, or groups of diseases Develops and better coordinates research and data collection Develops European and international cooperation The second National Plan 2011-2014 : Evaluation, consolidation, progress With a 240 M budget

4. ¨ 1) To improve patients healthcare pathways > coordinate and regroup centres of expertise : creation of 20 to 30 vertical networks called « filières » from diagnosis to provision of health and social care To fit into future European Reference Networks, a priority today at European level The Second French National Plan Work in progress : provision of diagnosis and care (1)

5. ¨ Pool resources, expertise, coordination and animation, tele- expertise; Facilitate the referral of patients and health professionals in the health care system; Improve diagnosis management, in connection with platforms of molecular genetic diagnostics laboratories; Develop Good Practice Guidelines and Training Tools; Coordinate research activities and epidemiological studies with the support of the National Data Bank for rare diseases; Patient associations are included in their activities, their governance and in the external evaluation. 1/ National networks or filières

6. ¨ National network « Filiéres » Local / regional platform European Reference Networks coordination of health and social care, and social services Coordination of expertise Interconnexion of networks : a prospective view

7. ¨ 2) Develop high speed sequencing and CG Array with dotations to university diagnosis laboratories in all regions. 3) Simplify and multiply National Protocols for Diagnosis and Care, written by the Centres of reference together with the patient associations, to guide prescription and coverage of medical acts, rehabilitation, treatments and drugs: from 26 (1st plan) to 200. The HTA Agency (HAS) provides a methodology to the centres of reference and validates the Protocols accordingly. The Second French National Plan Work in progress : provision of diagnosis and care (2)

8. ¨ 4) Creation of a National Data Bank for rare Diseases to coordinate and develop the collection of epidemiological data, with a common minimum data set for all patients, using the OrphaCode; 5) Creation of a Research Institute on genetic diseases at Necker Hospital in Paris, and funding of a registry project for 200 diseases : « Radico »; 6) Creation of a National Rare Diseases Foundation for cooperative research to impulse and advise rare diseases research and collect private funding; 7) 3-year research proposals will be funded by the National Research Agency, and by hospital clinical research funds: 10 million each, every year. The second French National Plan Work in progress : research

9. ¨ 8) Exchange of experiences and participation to the actions of the European Committee of Experts: Recommendations on quality criteria for centres of expertise and European reference networks, Implementation of plans and strategies for rare diseases at national level, standardisation of rare disease nomenclature at international level, mapping the provision of specialised social services and integration of rare diseases into mainstream social policies and services ( led by EURORDIS). 9) Participation to many European projects, in particular: E-Rare (to coordinate research), ECRIN (to facilitate clinical trials). -isease The second French National Plan Work in progress : European and international cooperation

10. ¨ France's contribution to the activities of EUCERD (the European Union Committee of Experts on Rare Diseases) Development of Orphanet The French contribution Development of European Reference Networks Indicators of quality of care for rare diseases and Centers of Expertise Promotion and support to the development of national plans for rare diseases Recommendations on informed decisions based on the Clinical Added Value of Orphan Medicinal Products (CAVOMP) Continued development of the Orphanet database Used in Europe and at international level SEO work of rare diseases in the ICD11

11. ¨ The 22 regional health agencies will have a key role to play. Contact persons in each agency will have to : Follow up the funds allocated to centres of reference and networks (contracts with hospitals) and oversee the implementation of the actions of the Plan; Identify unfullfilled medical and social needs: in particular adapted respite care, support to carers, complex care managers; Help implementing therapeutic education programmes and training programmes of health professionals; Better coordinate health care with social care. National Plans next challenge : articulation with regional level, linking medical and social care

12. ¨ In a context of economic crisis and scarce resources We have to put social issues on the forefront We need to share experiences and cooperate Together, we need to be innovative, and rare diseases are a good model in that respect Thank you! The second French National Plan 2011 - 2014