5.15.4. Control tools and policies

Several policies are already in place in Europe either at EU level or at Member States (MS) level.

Regulation No 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products sets up the criteria for orphan designation in the EU and describes the incentives (e.g. 10-year market exclusivity, protocol assistance, access to the Centralised Procedure for Marketing Authorisation) to encourage the research, development and marketing of medicines to treat, prevent or diagnose rare diseases. Commission Regulation No 847/2000 of 27 April 2000, lays down the provisions for implementing the criteria for orphan designation and defining the concepts of "similar medicinal product" and "clinical superiority". A general report has been recently published regarding the experience acquired with the application of Regulation No 141/2000 on Orphan Medicinal Products in the first five years.

Regulation 1394/2007 of the European Parliament and of the Council on advanced therapy medicinal products (European Commission, 2007), amending Directive 2001/83/EC and Regulation No 726/2004, adopted (in first reading) on 31st May 2007, is also directly linked to activities closely related to RD. This Regulation establishes new EU-wide rules to facilitate gene, cell and tissue-based therapies development and will set up a centralised marketing authorisation procedure, a new expert Committee at the EMEA and strengthen the requirements for risk management and traceability of advanced therapy products.

At Member State level, several countries have taken action to specifically support research in the field of RD, support the development of Orphan Medicinal Products and adapt their health care systems to the needs of the RD patients’ community. A first inventory of these initiatives and incentives was published in January 2001, and made available in all Community languages in June 2001. In 2005, Member States were asked to communicate details on measures introduced in or in force since 2002. The information collected was published in 2006 (European Commission, 2006). This second publication represents the status of such incentives as of the end of 2005.

In 2000, a Committee for Orphan Medicinal Products (COMP) was established at the European Medicines Agency (EMEA) to review designation applications from persons or companies with the intention to develop medicines for rare diseases. This committee is responsible for studying the applications for orphan designation, for giving opinions on the designation of orphan medicinal products, and for advising and assisting the Commission in discussions on orphan drugs.

DG Public Health established in 2004 a Rare Diseases Task Force to advise and assist in promoting the optimal prevention, diagnosis and treatment of RD and to provide a forum for discussion, exchange of views and experience on all issues related to rare diseases.

In November 2008, the European Commission also adopted a Communication on Rare Diseases: Europe’s challenges (available at http://ec.europa.eu/health/ph_threats/non_com/rare_10_en.htm). The Communication aims at the general objective of setting out an overall Community strategy for support to Member States in ensuring effective and efficient recognition, prevention, diagnosis, treatment, care, and research for rare diseases in Europe. It promotes the development of integrated strategies including actions to improve recognition and visibility of rare diseases; support policies on rare diseases in the EU Member States; develop European cooperation, coordination, and regulation for rare diseases; ensure empowerment and involvement of patients and patients' organisations. Following the Communication, the European Commission prepared a proposal for a European Council Recommendation on a European action in the field of rare diseases (COM(2008) 726 final). This proposal is available on line at the URL indicated above.

The European Commission issued in November 2008 a Communication defining the elements for a policy on RD in Europe through public consultation. The general aims of this policy are: strengthen the cooperation between the EU programmes; encourage EU MS in developing national health policies; ensure that common policy guidelines are shared everywhere in Europe. The attainment of these goals should require the improvement of knowledge and identification of RD; improvement of diagnosis and care of patients with RD; accelerate research and developments in the field of RD and OD; empower patients with RD at individual and collective level; coordination of policies and initiatives at MS level and EU level.

A Community action programme on rare diseases, including genetic diseases, was adopted for the period 1 January 1999 to 31 December 2003 with the aim of ensuring a high level of health protection in relation to rare diseases. As a first EU effort in this area, specific attention was given to improving knowledge and facilitating access to information about these diseases. Rare diseases are still one of the priorities in the EU Public Health Programme 2003-2008. The two main lines of action are the exchange of information via existing European information networks on rare diseases, and the development of strategies and mechanisms for information exchange and co-ordination at EU level to encourage continuity of work and trans-national co-operation. Several networks of centres of reference for a specific rare disease or a group of rare diseases (Cystic Fibrosis, Rare bleeding disorders, Alpha 1 antitrypsin deficiency, Porphyries, Dysmorphology, Paediatric Hodgkin's Lymphoma, Histiocytosis, and Paediatric Neurological diseases) have been selected for funding. They will serve as pilot projects for reference networks of centres of expertise, which is the denomination they have now adopted.

The Sixth Framework Programme (FP6) for Research, Technological Development and Demonstration Activities (2002-2006) has included among its priorities the fight against major diseases, including rare diseases to improve the prevention and management of important causes of mortality and ill health in Europe and to pool Europe's research resources for tackling rare diseases. The funded research projects are giving a decisive contribution to improving knowledge for several dozens of RD. In the Seventh Framework Programme (FP7) support for rare-disease research will be targeted at pan-European studies of natural history, patho-physiology, and the development of preventive, diagnostic and therapeutic interventions. This sector will include rare mendelian phenotypes of common diseases.