Presentation to the European Conference Rare DiseasesLuxembourg, 21-22 June, 2005

SUMMARY COMPARISON SUMMARY COMPARISON OF OF

NATIONAL PLANS AND PRACTICESNATIONAL PLANS AND PRACTICES

Domenica Taruscio

taruscio@iss.ithttp://www.cnmr.iss.it

Co-ordinator of the EU project NEPHIRDMember of the Rare Disease Task Force

Italian National Centre Rare DiseasesIstituto Superiore di Sanità (Italy)

SUMMARY COMPARISON SUMMARY COMPARISON OF NATIONAL PLANS AND PRACTICESOF NATIONAL PLANS AND PRACTICES

Information collected thanks to:A SPECIFIC QUESTIONNAIRE ELABORATED BY THE EMEA,DIFFUSED AND COLLECTED BY THE RARE DISEASE TASK FORCECo-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

COUNTRIES

BELGIUMDENMARKESTONIAFRANCEGERMANYITALYNETHERLANDSSPAINSWEDENUK

TYPES OF INTERVENTION• Actions / Structures

• Databases (rare diseasesand / or orphan drugs)

• Research (specificschemes and / or RD aspriority topic in nationalresearch programmes)

• Public support to patientsorganizations

• Specific national criteriato define RD

National Plans/ National Centres

National Networks /National Registries

Public funded structureson RD (specific or groups)

Steering Committee on RD at Ministry level

Steering Committee on Orphan Drugs at Ministrylevel

Specific national criteriato define RD

SW100 : 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)

BELGIUM

8 centres for human geneticsaffiliated to Universities

6 publicly funded university hospital-based units for inborn metabolic errors

National Fund for Scientific Research has contact group on rare diseases

DENMARK (1)1994-1996:11 Working 11 Working GroupsGroups were set up to establish treatment programsfor 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

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

ESTONIAEstonian Science Foundation provides research grants(approx. 600-800K EEK over 4 years)

Neonatal DNA diagnostics, newborn screeninghttp://www.dnatest.med.ee/

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

FRANCE

French National French National Plan Plan

for Rare for Rare DiseasesDiseases20052005--20082008

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.

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

ITALY (1) 2 2 NationalNational HealthHealth PlansPlans ‘‘9898--00; 200300; 2003--0505

RegionalRegional HealthHealth PlansPlans

NationalNational Network Network forfor Rare Rare DiseasesDiseases

(2001(2001--))

Agreement Agreement betweenbetween the the MinistryMinistry of of

HealthHealth and and RegionsRegions (2002(2002--))

NationalNational CommitteeCommittee on RD on RD

ResearchResearch ProjectsProjects forfor RDRD

ResearchResearch PlansPlans forfor OrphanOrphan DrugsDrugs (AIFA)(AIFA)

ITALY(2) : National Network for RDMinisterialMinisterial DecreeDecree 279/2001279/2001

To implement prevention activities(e.g. folic acid)To develop epidemiological surveillanceTo implement both diagnosis and care interventionTo 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)

ITALY(3): National Registry RD

GeneralGeneral objectivesobjectives::

-- NationalNational and and regionalregional healthhealth planningplanning-- SurveillanceSurveillance of RDof RD

SpecificSpecific objectivesobjectives- incidenceincidence or/and or/and prevalenceprevalence-- diagnosticdiagnostic and and therapeutictherapeutic protocolsprotocols-- collaborationcollaboration amongamong healthhealth care care

operatorsoperators

Results:- Epidemiological data on 547 RD

Ad hoc studies: - Diagnostic delay (Prader-Willi s.)- Patients’ migration

EpidemiologicalEpidemiological flowflow

Inter-regional Coordination

Centres

Regional Centres

National Registry Rare DiseasesIstituto Superiore di Sanità

ITALY (4)Agreement Agreement betweenbetween the the MinistryMinistry of of

HealthHealth and and RegionsRegions (2002)(2002)

To co-ordinate regional network activitiesTo elaborate clinical protocols and guidelinesTo implement epidemiologicalsurveillanceTo disseminate information on RDTo collaborate with patients’Associations

RESEARCH

NATIONAL

REGISTRY

RARE DISEASES

NEPHIRD

EQA

GENETIC TESTS

MEETINGS

and COURSES

INFORMATION

PATIENTS

ASSOCIATIONS

ORPHAN DRUGS EMEA

NATIONAL CENTRE RARE DISEASESNATIONAL CENTRE RARE DISEASES

http://www.cnmr.iss.it

ISTITUTO SUPERIORE DI SANITAISTITUTO SUPERIORE DI SANITA’’

NETWORK PEDIATRICS

EQA

GENETIC TESTS

E. Q. A.

GENETIC TESTS

NL (1)The Steering Committee on Orphan Drugs:

- established in 20012001 (Minister of Health) - to encourage the development of orphan drugsto encourage the development of orphan drugs- to improve the situation of patients with RDpatients with RD

Clinical reference centres: - the 8 academic medical centres8 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 orphana programme on RD and orphan drugs,

at the Netherlands Organisation for Health Research and Development (ZonMw) (up to € 250.000)

NL (2): ResearchInnovational research incentives scheme (1996-2011):Granted projects on RD: - 7% (50 / 729 total projects) in 1998-2004

- 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

NL (3): ResearchBioPartner 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

NL (4): Informationwww.orphandrugs.nl general information on rare diseases and orphan drugswww.erfocentrum.nl 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.

SPAIN (1): Actions on Rare DiseasesActions on Rare Diseases

Period 1999-2003National 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 2004 -National Rare Diseases Centre (Ministry of Social Affaires)12 Research Networks (e.g., Fanconi anemia)New national strategy on Rare Diseases is under discussion

SPAIN (2)National Research Rare Diseases Institute (Instituto de Salud Carlos III):

Steering Committee on Rare Diseases (12 Networks)Steering Committee on Rare Diseases (12 Networks)List of orphan drugs available on REpIER websiteNational neo-natal screening programmeDirectory 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

Epidemiological Network on Rare Disease Research(REpIER) http://iier.isciii.es/repier

Scientific Activities:

Good PracticesCodingTraining ProgrammeList of rare diseasesEpidemiological informationRegistriesCongenital anomaliesPharmacoepidemiology GroupRare Malignant TumorsSamples BankQuality of life / cost of the disease

SWEDEN (1)Criteria RD: 100 / 1million (1 / 10,000)

The Swedish Research Council Medicinesupports research 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. (www.sos.se/smkh)

- The Swedish Information Center for Rare DiseasesSmågruppscentrum, Sahlgrenska academy, Gothenburg University (smagruppscentrum@sahlgrenska.gu.se)

• Ågrenska AB (www.agrenska.se): - Ågrenska's newsletter - Educational projects

SWEDEN (2)

Measures in prevention / early diagnosis / management of Rare Diseases:

National neonatal screening for PKU, galactosemia, congenital hypothyroidism, congenital adrenogenitalhyperplasia

Many Centers: Reference Centers listed in a National Catalogue

SWEDEN (3)National coordination:National coordination:

examples:Working party for inborn errors of metabolism(The Swedish National Association for Pediatricians)

Nordic Network for Cystic Fibrosis

•• ""SSäällsyntallsynta diagnoserdiagnoser" (Rare diagnoses) Swedish " (Rare diagnoses) Swedish umbrellaumbrellaorganisation for rare diseasesorganisation 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

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 lowerprevalence 1 : 50,000 or lower

Need for planning at national level

Services for Services for 3232 very rare diseases or treatmentsvery rare diseases or treatments (e.g. major organ transplants) are special funded and monitered (system has been running for over 15 years)

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 satisfactionpatient satisfaction surveyssurveysand mapping of access rates from remote areasmapping of access rates from remote areas

SUMMARY (1)

XXXXSteering committee on Orphan Drugs

XXSteering Committee on RD at Ministry level

XXXXXXXXXPublic funded structures on RD (specific RD or groups)

(X)XXXXNat.Networks / Nat. Registries

XXX(X) 2R.C.

Nation. Plans /NationalCentres

UKSWNLITFRESEEDKDEBEACTIONS

SUMMARY (2)

XXXXXXXPublic support to patients organizat.

XXXXResearch: RD as priority topic

XXXXXResearch: Specific Schemes

X(X)XXXDatabases on Orphan drugs

XXXXXXDatabases on RD

UKSWNLITFRESEEDKDEBEACTIONS

ConclusionsDifferents approaches:

- policy attitudes ?- evaluation of national needs ?

Many Countries have public funded structuresFew Countries have national plansScarce epidemiological data / information at EU levelNeed for targeted research schemes at EU level (E-Rare)National policies should give adequate attention to the role of patients organizations