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Focus on Regulation


On 5 September 2014, the European Commission released the Implementation report on the Commission Communication on Rare Diseases: Europe’s challenges (COM(2008) 679 final) and Council Recommendation of 8 June 2009 on an action in the field of rare diseases (2009/C 151/02) (the “Implementation Report”).

As part of the European Commission’s drive to take action concerning rare diseases, the Implementation Report analyses the extent to which the Commission’s measures on rare diseases have been established.

The Implementation Report provides an overview of the European Union (“EU”) rare diseases strategy to date, including the Commission Communication (COM(2008) 679 final) and Council Recommendation (2009/C 151/02).

European Commission Communication

The European Commission’s Communication on rare diseases in 2008 set out the overall strategy to support EU Member States in diagnosing, treating and caring for EU citizens with rare diseases.

The Communication focused on improving the recognition of rare diseases, supporting EU Member States to develop strategies, and improve cooperation, coordination and regulation for rare diseases at EU level.

Council Recommendation

In June 2009, the Council adopted the Recommendation on action in the field of rare diseases, which recommended that EU Member States adopt national strategies for responding to rare diseases by 2013.

The Recommendation focused on defining rare diseases, research, European reference networks, gathering expertise at EU level, empowering patient organisations and sustainability.

Additional Legislation

Article 13 of Directive 2011/24/EU on the application of patients’ rights in cross-border healthcare provides that the European Commission will support EU Member States in educating patients and healthcare professionals on the referral possibilities for patients with rare diseases offered by Regulation (EC) No 883/2004. This Regulation offers referrals for cross-border healthcare in the EU.

In 1999, the European Parliament and the Council adopted Regulation (EC) No 141/2000 (the “Orphan Regulation”) which aims to provide incentives for the development of orphan medicinal products. Although more than 90 orphan medicinal products have been authorised by the European Commission, orphan medicinal products are not available in all EU Member States. The European Commission is, therefore, seeking to develop a cooperation mechanism to provide real life access to orphan medicinal products for patients suffering with rare diseases.

Conclusions of Implementation Report

The Implementation Report concluded that the European Commission had “by and large” reached the objectives of the Communication and Council Recommendation. However, the Implementation Report also encourages continued development on action on rare diseases.

The Implementation Report based its conclusions on the following improvements:

  • Implementation of national strategies: The number of EU Member States with national plans for rare diseases has increased since 2009 from 4 to 16, with 7 additional EU Member States developing plans.
  • Definition of rare disease: Through Article 3 of the Council Recommendation, EU Member States have committed to use a common definition of rare disease, as a disease affecting no more than 5 per 10,000 persons.
  • Sharing of information: The European Commission is supporting Orphanet, which is a relational database, linking together information on over 6,000 diseases. The Commission also recently co-funded the Rare Best Practices project, which aims to elaborate standards and transparent reliable procedures for the development and evaluation of clinical practice guidelines for rare diseases.
  • Coordination of research: Nearly 120 collaborative research projects are being funded by the Seventh Framework Programme for Innovation and Technological Development (FP7). Research has also been coordinated through the use of EU-funded ERA-NET project E-RARE-2, which holds joint transnational calls between funding agencies in 13 EU Member States as well as Turkey, Israel, Switzerland and Canada. The International Rare Diseases Research Consortium (IRDiRC) has also been launched, which seeks to deliver 200 new therapies for rare diseases by 2020.
  • Empowering patient organisations: The European Commission’s Joint Research Centre is currently developing a European Platform on Rare Diseases Registration, which will provide a central access point for information on rare diseases patients’ registries. There has also been an increasing number of national alliances of rare disease patient organisations have been created in Europe.

Despite concluding that the European Commission had by and large reached the objectives of the Recommendation and the Council Communication, the Implementation Report stated “there is still a long way to go” to ensure that patients with a rare disease can obtain the best possible treatment in the EU.

The EU will continue to fund action on rare diseases. This will feature prominently in the new Health Programme and the EU Research and Innovation Programme Horizon 2020, which is the EU Framework Programme for Research and Innovation funding for the period 2014-2020.

The European Commission will continue to support the development of national rare diseases plans, coordinate the development of EU policy and research, and promote patient empowerment and public awareness.