SUMMARY COMPARISON OF NATIONAL PLANS AND PRACTICES. Domenica Taruscio

Transcription

1 Presentation to the European Conference Rare Diseases Luxembourg, June, 2005 SUMMARY COMPARISON OF NATIONAL PLANS AND PRACTICES Domenica Taruscio Co-ordinator of the EU project NEPHIRD Member of the Rare Disease Task Force Italian National Centre Rare Diseases Istituto Superiore di Sanità (Italy)

2 SUMMARY COMPARISON OF NATIONAL PLANS AND PRACTICES Information collected thanks to: A SPECIFIC QUESTIONNAIRE ELABORATED BY THE EMEA, DIFFUSED AND COLLECTED BY THE RARE DISEASE TASK FORCE Co-ordinator: Dr. S. Aymé A SURVEY PERFORMED IN THE FRAME OF THE PROJECT NEPHIRD (NETWORK OF PUBLIC INSTITUTIONS ON RARE DISEASES) FUNDED BY DG-SANCO. Co-ordinator: D. TARUSCIO

3 COUNTRIES BELGIUM DENMARK ESTONIA FRANCE GERMANY ITALY NETHERLANDS SPAIN SWEDEN UK

4 TYPES OF INTERVENTION Actions / Structures Databases (rare diseases and / or orphan drugs) Research (specific schemes and / or RD as priority topic in national research programmes) Public support to patients organizations Specific national criteria to define RD National Plans/ National Centres National Networks / National Registries Public funded structures on RD (specific or groups) Steering Committee on RD at Ministry level Steering Committee on Orphan Drugs at Ministry level

5 Specific national criteria to define RD SW 100 : 1,000,000 (i.e., 1: 10,000) except for orphan drugs: EU REG. 141/2000 (5: 10,000) UK: NSCAG scheme for very rare diseases (2: 100, 000; i.e. 1:50,000)

6 BELGIUM 8 centres for human genetics affiliated to Universities 6 publicly funded university hospital-based units for inborn metabolic errors National Fund for Scientific Research has contact group on rare diseases

7 DENMARK (1) : 11 Working Groups were set up to establish treatment programs for 11 specific rare diseases to work as model programs 1997: Working group set up by the National Board of Health to make Recommendations on the future organization of diagnostics and treatment of rare diseases Recommendations from the Danish National Board of Health

8 DENMARK (2) Recommendations from the Danish National Board of Health Two reference centres: a) Center for rare diseases in Aarthus University Hospital b) The Clinic for rare disorders at the Copenhagen University Hospital Reference programs for individual rare diseases or groups of RD Distribution of responsability between reference centres and regional / local hospital Orphan Drug Committee

9 ESTONIA Estonian Science Foundation provides research grants (approx K EEK over 4 years) Neonatal DNA diagnostics, newborn screening Regular annual support from state budget is given to Patients Representative Association of Estonia. In addition, all patients organisations can apply the resources for different projects from gambling tax. Orphanet member

10 FRANCE French National Plan for Rare Diseases

11 GERMANY (1) National funding scheme for rare disease research: started in 2003 (5 million euros in 2004). Funding of 10 networks for rare diseases for an initial 3 years with possible extension after 2 years. There is also a publicly funded programme on clinical trials and innovative therapies.

12 GERMANY (2) Orphan drugs in public database (AMIS) German legislation on medicinal products provides for the rapid authorisation of medicinal products of great therapeutic use. This also applies to medicinal products intended for the treatment of orphan diseases. Pre - authorisation access to orphan drugs will be implemented through amendment to German drug law expected in Oct 2005

13 ITALY (1) 2 National Health Plans 98-00; Regional Health Plans National Network for Rare Diseases (2001-) Agreement between the Ministry of Health and Regions (2002-) National Committee on RD Research Projects for RD Research Plans for Orphan Drugs (AIFA)

14 ITALY(2) : National Network for RD Ministerial Decree 279/2001 To implement prevention activities (e.g. folic acid) To develop epidemiological surveillance To implement both diagnosis and care intervention To promote citizens information and physicians training National Registry Rare Diseases at the Istituto Superiore di Sanità About 500 RD are free of charge (diagnosis and treatment)

15 ITALY(3): National Registry RD General objectives: - National and regional health planning - Surveillance of RD Specific objectives - incidence or/and prevalence - diagnostic and therapeutic protocols - collaboration among health care operators Results: - Epidemiological data on 547 RD Ad hoc studies: - Diagnostic delay (Prader-Willi s.) - Patients migration Regional Centres Epidemiological flow Inter-regional Coordination Centres National Registry Rare Diseases Istituto Superiore di Sanità

16 ITALY (4) Agreement between the Ministry of Health and Regions (2002) To co-ordinate regional network activities To elaborate clinical protocols and guidelines To implement epidemiological surveillance To disseminate information on RD To collaborate with patients Associations

17 RESEARCH NATIONAL REGISTRY RARE DISEASES NETWORK PEDIATRICS PATIENTS ASSOCIATIONS NATIONAL CENTRE RARE DISEASES E. EQA EQA Q. A. GENETIC TESTS INFORMATION ISTITUTO SUPERIORE DI SANITA ORPHAN DRUGS EMEA MEETINGS and COURSES NEPHIRD

18 NL (1) The Steering Committee on Orphan Drugs: - established in 2001 (Minister of Health) - to encourage the development of orphan drugs - to improve the situation of patients with RD Clinical reference centres: - the 8 academic medical centres are the main clinical reference centres - Also other hospitals may function as centres (e.g. 16 haemophilia centres, 1 for Gaucher and Fabry disease). Funds from the Ministry of Health, Welfare and Sport - to prepare a programme on RD and orphan drugs, at the Netherlands Organisation for Health Research and Development (ZonMw) (up to )

19 NL (2): Research Innovational research incentives scheme ( ): Granted projects on RD: - 7% (50 / 729 total projects) in annual budget of 9-10 million Euros Gene therapy research scheme (2005-): - 2 projects are assigned to rare diseases - budget 2 million Euros New programme on rare diseases and orphan drugs Ministry of Health (2005/2006): - preparation of the programme - budget 250,000 Euros

20 NL (3): Research BioPartner FSG/STIGON programme: to establish high-tech businesses in life sciences, including medicinal products for chronic and rare diseases. Funded by several ministries and scientific institutions. (budget about 9 million). Steering Committee on Orphan Drugs grants money for rare disease research (50,000 Euros) An orphan business developer starts in 2005 to stimulate Dutch academic researchers and pharmaceutical industries to develop orphan drugs. Project funded by the Ministry of Health for 4 years

21 NL (4): Information general information on rare diseases and orphan drugs information is available on specific rare diseases The Steering Committee on Orphan Drugs functions as an information centre for rare diseases and orphan drugs The Dutch patient alliance VSOP started a Working group for rare diseases in 2000 and functions as a information centre for patients with a rare disease The Stichting Fonds PGO subsidises national patient organisations, including specific and umbrella patient organisations for RD. This foundation is funded by the Ministry of Health.

22 SPAIN (1): Actions on Rare Diseases Period National Agency Health Research: - Projects - RETICS (Research Networks) Project Special Needs on Rare Diseases (Ministry of Social Affaires) National Research Rare Diseases Institute (Instituto de Salud Carlos III) European Projects Period National Rare Diseases Centre (Ministry of Social Affaires) 12 Research Networks (e.g., Fanconi anemia) New national strategy on Rare Diseases is under discussion

23 SPAIN (2) National Research Rare Diseases Institute (Instituto de Salud Carlos III): Steering Committee on Rare Diseases (12 Networks) List of orphan drugs available on REpIER website National neo-natal screening programme Directory of diagnosis centres on genetic and metabolic diseases (INERGEN website, REC-GEN) Public and private funds to support patient organisations (FEDER) Discussion beginning on centres of reference

24 Epidemiological Network on Rare Disease Research (REpIER) Scientific Activities: Good Practices Coding Training Programme List of rare diseases Epidemiological information Registries Congenital anomalies Pharmacoepidemiology Group Rare Malignant Tumors Samples Bank Quality of life / cost of the disease

25 SWEDEN (1) Criteria RD: 100 / 1million (1 / 10,000) The Swedish Research Council Medicine supports research on rare diseases (1,1 M / 2005) Actions Nationaly funded: - The Swedish Rare Disease Information Database (Swedish National Board of Health and Welfare) information on RD, services, etc. ( - The Swedish Information Center for Rare Diseases Smågruppscentrum, Sahlgrenska academy, Gothenburg University (smagruppscentrum@sahlgrenska.gu.se) Ågrenska AB ( - Ågrenska's newsletter - Educational projects

26 SWEDEN (2) Measures in prevention / early diagnosis / management of Rare Diseases: National neonatal screening for PKU, galactosemia, congenital hypothyroidism, congenital adrenogenital hyperplasia Many Centers: Reference Centers listed in a National Catalogue

27 SWEDEN (3) National coordination: examples: Working party for inborn errors of metabolism (The Swedish National Association for Pediatricians) Nordic Network for Cystic Fibrosis "Sällsynta diagnoser" " (Rare diagnoses) Swedish umbrella organisation for rare diseases, associated with EURORDIS, receives support from The Swedish Board of Health and Welfare, 1 M SEK/year (about 40 RD) Plus additional Patients Organization for RD

28 UK (1) There is not a global category of Rare Diseases Many regional initiatives, not a national project National Specialist Commissioning Advisory Group (NSCAG) scheme for reference centres for very rare diseases: prevalence 1 : 50,000 or lower Need for planning at national level Services for 32 very rare diseases or treatments (e.g. major organ transplants) are special funded and monitered (system has been running for over 15 years)

29 UK (2) Services are designated following consultation with medical profession and with patient groups and development service standards Careful attention to five basic sets of quality monitoring, including patient satisfaction surveys and mapping of access rates from remote areas

30 SUMMARY (1) ACTIONS BE DE DK EE ES FR IT NL SW UK Nation. Plans / National Centres () 2R.C. Nat.Networks / Nat. Registries () Public funded structures on RD (specific RD or groups) Steering Committee on RD at Ministry level Steering committee on Orphan Drugs

31 SUMMARY (2) ACTIONS BE DE DK EE ES FR IT NL SW UK Databases on RD Databases on Orphan drugs () Research: Specific Schemes Research: RD as priority topic Public support to patients organizat.

32 Conclusions Differents approaches: - policy attitudes? - evaluation of national needs? Many Countries have public funded structures Few Countries have national plans Scarce epidemiological data / information at EU level Need for targeted research schemes at EU level (E-Rare) National policies should give adequate attention to the role of patients organizations