Dr Alain Garcia General Secretary of the Rare Diseases National Plan 2011-2014

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

2. The first National Plan 2005-2008 : the setting of foundations The Plan acknowledged the specificity of rare diseasesand 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 Afterevaluation, 200 M € werespent, 100 M€ for permanent support to centres of reference, 40 millions for research .

3. The second National Plan 2011-2014 : Evaluation, consolidation, progress With a 240 M € budget • Consolidatespreviousachievements : • Simplifies the designation and evaluationprocess 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 : • Betterlisibility and accessto diagnosis, care and social services • Improvedquality : National Protocols for Diagnosis and Care for diseases, or groups of diseases • Develops and bettercoordinatesresearch and data collection • Develops European and international cooperation

4. The Second French National Plan Work in progress : provision of diagnosis and care (1) • 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

5. 1/ National networks or “filières” • 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.

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

7. The Second French National Plan Work in progress : provision of diagnosis and care (2) • 2) Develophigh speed sequencing and CG Arraywith dotations to universitydiagnosislaboratories in all regions. • 3) Simplify and multiply National Protocols for Diagnosis and Care, written by the Centres of referencetogetherwith the patient associations, to guide prescription and coverage of medicalacts, 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 Protocolsaccordingly.

8. The second French National Plan Work in progress : research • 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 geneticdiseasesat Necker Hospital in Paris, and funding of a registryproject for 200 diseases : « Radico »; • 6) Creation of a National Rare Diseases Foundation for cooperativeresearch to impulse and advise rare diseases research and collectprivatefunding; • 7) 3-year researchproposalswillbefunded by the National Research Agency, and by hospitalclinicalresearchfunds: 10 million € each, everyyear.

9. The second French National Plan Work in progress : European and international cooperation • 8) Exchange of experiences and participation to the actions of the EuropeanCommittee of Experts: • Recommendations on qualitycriteria for centres of expertise and Europeanreference 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 manyEuropeanprojects, in particular: E-Rare (to coordinateresearch), ECRIN (to facilitateclinical trials). • isease

10. The French contribution • France's contribution to the activities of EUCERD (the European Union Committee of Experts on Rare Diseases) • Development of Orphanet • 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. National Plan’s next challenge : articulation with regional level, linking medical and social care • 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.

12. The second French National Plan 2011 - 2014 • In a context of economiccrisis and scarceresources • We have to put social issues on the forefront • Weneed to shareexperiences and cooperate • Together, weneed to beinnovative , and rare diseases are a good model in that respect • Thankyou!