The Dynamic of National initiatives for Rare Diseases Where are we? Krakow, 14 May 2010 www.eurordis.org Terkel Andersen President of EURORDIS
If this was intellectual capital…
Rare diseases, a European public health priority
Rare diseases have been recognized as a unique domain of very high European added-value:
Rare diseases are life-threatening or chronically debilitating diseases with a low prevalence and a high level of complexity
The limited number of patients calls for transnational cooperation
Scarcity of relevant knowledge and expertise warrants intelligent solutions
The total number of RD patients constitutes a significant welfare issue
Research and Development in Rare diseases will contribute to European welfare and economic growth
Europe’s policy framework for rare diseases : founding texts
Regulation of the European Parliament and of the Council of
on orphan medicinal products
Adopted on 16 December 1999
2000: Creation of the Committee for Orphan Medicinal Products at the European Medecine Agency
Communication from the European Commission to the European Parliament, the Council, the European Economic and Social Committee and the Committee of the Regions : « Rare Diseases, Europe’s challenge »
Adopted on November 11th, 2008
Council Recommandation on an action in the field of rare diseases
Adopted on June 9th, 2009
30 november 2009: Decision to create the European Union Committee of Experts on Rare Diseases
A road map for the implementation
1980- 2005 First National Initiatives in Europe
Norway: RD initiatives from the 1980’s. Priority area from 1990 to 1993. Individual plans for service provision; Today 16 national centers
Nordic collaboration on Rare Diseases 1984-1989
Denmark, 1990: Info service (CSH). Establishment of 2 specialised centres for rare diseases. 2001: Recommendations of the Danish National Board of Health
Sweden, 1990 : Information Centre, and Competence centre in Agrenska
France, 1997: Creation of OrphaNet
Spain, 1999: Sistema de Información sobre Infermedadas Raras
Italy, 2001: rare diseases become a health care priority in the 3 years National health plan : national network for prevention, surveillance, diagnosis and treatment: over 250 regional centres designated & National and regional registries
Netherlands: 2001: steering committee on orphan drugs,
national web-based facilitating registry
2005 – 2009 First National plans :
National plans: ensuring access to high quality care, including diagnostics, treatments, habilitation for those living with the disease and, if possible effective orphan drugs
France 2005-2008 : France. 131 centres of reference designated 2010-2013: Second comprehensive plan, to consolidate progress
Luxembourg, 2005: creation of a task force on rare diseases
Bulgaria, 2008: national register, improved diagnosis, training of professionals, awareness raising, clinical services, treatments…
Romania. National committee with all stakeholders establish a strategy
Portugal. national network of treatment centres, training, data collection
Spain. National strategy, designation of national and regional centres of reference, national registry
DG Public Health and Consumers:
1999-2003: First Community Action Programme funding projects and services
2003-2008 EU Public Health Programme (funding e.g. Rapsody)
2004: Rare Disease Task Force: OrphaNews
WG: Standards of Care – Centers of expertise & European Reference Networks
WG Coding and Classification – Revision of ICD-10
WG Public Health Indicators – Databases and Registries
2008-13 Second Community Action Programme
Exchange of information and transnational cooperation
Funding of projects: E.g.: Evaluation of Newborn screening practices
Annual workshops and the ECRD conferences
DG Enterprise and Industry & EMA :
2007 Regulation on Medicinal Products for Pediatric Use
2009 Committee for Advanced Therapies (CAT)
2010 EMA is transfered to DG Health
European Commission’s Framework Programme for R&D (FP) – Estimated budget allocated directly to rare diseases or for projects potentially useful for rare diseases (e.g. fundamental research on genetic therapies or cell therapies):
6th Framework Programme (FP6) – years from 2002 to 2007 (entire programme duration) = 230 million EUR
7th Framework Programme (FP7) – years from 2008 to 2009 – approx. 80 million EUR (FP7 is still ongoing, it will end in 2013)
Patient organisations support to RD research 2009: a minimum of 13 mio euros
How did it become possible?
Strong patient groups, speaking with one voice in National federations or Alliances . The growing impact of Eurordis’ initiatives.
Awareness raising of the public: TV shows such as telethon in France and Italy, media campaigns, The Rare Disease Day
Studies establishing the state of the art: EurordisCare study at EU level, X in Germany, ENseRio in Spain
Assessment of the bottlenecks in the care of people with a rare disease, of the main patients’ needs and of possible solutions
National committees with a representation of all stakeholders (Netherlands, Luxembourg, Romania..)
Dedicated people and pioneers can move mountains!
Europe’s overall strategy for rare diseases
Plans or strategies are to be established and implemented “preferably by the end of 2013”.
The health authorities of the 27 EU member states (MS) signed the Council Recommendation, stating their willingness to fulfil this deadline.
National strategies or plans will feed the European dynamics across member-states and future European policies
6 main priorities for National strategies or plans :
Adequate definition, inventory and codification of rare diseases
Centres of Expertise and EU Reference Networks
Gather expertise at EU level: protocols and guidelines
Empowerment of patient organisations
Europe’s active networks
Draft recommendations for the development of national plans for rare diseases : The Guidance document
Selected indicators to evaluate the achievements of RD initiatives (WP5)
15 National conferences in 2010 organised by the National Alliances and EURORDIS
Some ongoing initiatives
Hungary: 2008 National Centre for Rare Disease
Poland: 2008 National Committee for rare diseases
National plans under preparation in Austria, Cyprus, the Czech Republic, Finland, France (second plan) Germany (National working group established), Greece, Ireland, Italy, Lithuania (action group), Malta, UK (5 working groups), Turkey…
Cross border cooperation in Central Europe
Council of National Alliances of EURORDIS : 2 workshops/year, regular exchange of information, advocacy fact sheets.
CoE’s & ERN to promote standards of care
” The availability of evidence-based clinical guidelines in the field of rare diseases is extremely scarce”
Guidance document (5.4)
” A methodology for the mutual decision making and orgnization of care for a well-defined group of patients during a well-defined period”
Selecting indicators to evaluate the achievements of RD initiatives (Area 4: Centers of Expertise)
1. Decentralised health care systems
2. Insufficient resources in all countries
3. Need for supportive policies at EU level
4 Further development of cross national collaboration
6. Measuring the real impact on patients’ quality of life and health
1. Decentralised health care systems
How to make sure that strategies decided at national level have an impact on patients every day life?
Will centers of expertise catalyze or monopolize knowledge?
will national health strategies be translated into concrete actions in the regions of Italy, in autonomous communities in Spain, in all German Länders,, in the 24 Swiss cantons….?
Development of specialised social services may take even longer: help lines networking, respite care, support to carers… (one of the identified issues of the 2 nd French plan)
What about very rare diseases without patient groups? There is a high risk they become « super-orphans » among orphans.
2. Need for pooling resources
Limited number of diagnosis available in each country: 1928 rare diseases can be diagnosed in France, 1650 in Germany, 1479 in Italy (source: orphanet)
Limited number of centres of expertise
Limited number of good practice guidelines
Need for supportive policies at EU level
EU directive on cross boarder health care and patient mobility : legal base and funding for EU networks of centres of expertise
3rd EU Public Health Programme
8th EU Research and Technology Framework Programme 2014-2020
EU pharmaceutical legislations revisions
Revision of the directive on clinical trials
EU policies on organ donation and transplantation, gene testing and counselling, neonatal screening…
5 or 10 year strategies and action plans will only partially address the needs of 30 million patients affected by rare diseases for which there currently is no cure
Necessity to build sustainability into National Plans and strategies as much as possible: Centres of Expertise, proper funding of complex clinical pathways, information and clinical research infrastructures: databases, registries, biobanks…
Support co-operation between Member States (ex: E Rare) and active participation in Reference Networks
Necessity to build sustainability at European level : information networks, patient associations networks, EU Reference Networks of specialised centres, databases and biobanks, other basic and clinical research infrastructures…
European Conference on Rare Diseases, May 14, 2010, Krakow, Poland
A recipee for success
will be a long-lasting process involving watchful patient groups
(20) The WHO defined empowerment of patients as a ‘pre-requisite for health’ and encouraged a ‘proactive partnership and patient self-care strategy to improve health outcomes and quality of life among the chronically ill’. In this sense, the role of independent patient groups is crucial both in terms of direct support to individuals living with the disease and in terms of the collective work they carry out to improve conditions for the community of rare disease patients as a whole and for the next generations.
(21) Member States should aim to involve patients and patients′ representatives in the policy process and seek to promote the activities of patient groups.
Council Recommendation of 8 June 2009 on an action in the field of rare diseases
European Conference on Rare Diseases, May 14, 2010, Krakow, Poland
The need for a combined and global effort
Rare diseases will continue to be a serious challenge to the health and welfare of EU citizens for decades to come: Continuity is a precondition for success.
No Member State will be able to manage this challenge alone
By their complex nature Rare Diseases will be a set off for increased collaboration and innovation both in science and technology as in provision of services
Rare Diseases will be a test case for a modern approach to disease management leading to comprehensive, intelligent and empowering solutions
In their own interest Member States must pool resources and support collaboration. EU must secure continuity.
Patient organisations will work actively to support creation of synergies, promote idea generation and maximise available resources and assess outcome!
Let us prepare for the future – failure is not an option!