Report from the Commission to the European Parliament, the Council, the European Economic and Social Committee and the Committee of the Regions. 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

Rare diseases affect between 27 and 36 million people in the European Union and are a key health policy priority due to the limited number of patients and scarcity of relevant knowledge and expertise regarding particular diseases.

Patients with rare diseases often spend years of uncertainty waiting for their disease to be diagnosed, and for an appropriate treatment to be found. The medical expert who can diagnose such a rare disease may practice in another region or indeed in another Member State. Scientific knowledge on the specific rare disease is likely to be insufficient and scattered.

This is why the European Union dimension and the co-operation between Member States can make a difference, for example in pooling together knowledge and expertise, in fostering research and co-operation and in granting the authorisation of the best possible medicines for the whole European Union. EU action on rare diseases provides high added value.

To achieve this goal in 2008, the Commission adopted a Communication on Rare Diseases: Europe’s challenge, setting out an overall strategy to support Member States in diagnosing, treating and caring for EU citizens with rare diseases. The Communication focuses on three main areas: i) improving the recognition and visibility of rare diseases; ii) supporting policies on rare diseases in the Member States for a coherent overall strategy, and iii) developing cooperation, coordination and regulation for rare diseases at EU level.

Alongside the Communication, a Council Recommendation on action in the field of rare diseases was adopted a few months later, calling on Member States to put national strategies in place. The Recommendation focuses on i) definition, codification and inventory of rare diseases, ii) research, iii) European reference networks, iv) gathering expertise at EU level, v) empowerment of patient organisations, and vi) sustainability.

Article 13 of Directive 2011/24/EU on the application of patients’ rights in cross-border healthcare also addresses rare diseases. It states that the Commission shall support Member States, in particular by making health professionals aware of the tools available to assist the diagnosis of rare diseases, and by making stakeholders aware of the possibilities offered by Regulation 883/2004 for referral of rare disease patients to other Member States.

Rare Diseases were identified, for the first time, as a priority field for public health action in the European Union, in the Commission Communication of 24 November 1993 on the framework for action in the field of public health. This was followed by providing support for several projects as well as by setting up the Rare Diseases Task Force.

The Orphan Medicinal Products Regulation (Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products) established criteria for orphan designation in the EU and delivered a set of incentives (e.g. 10-year market exclusivity, protocol assistance, access to the Centralised Procedure for Marketing Authorisation) to encourage research, development and marketing of medicines to treat, prevent or diagnose rare diseases.

This report presents an overview of the implementation of the rare diseases strategy to date and takes stock of achievements and lessons learnt. It seeks to draw conclusions on the extent to which the measures foreseen in the Commission Communication and the Council Recommendation have been put in place and the need for further action to improve the lives of patients affected by rare diseases and their families.

ESO: Background information: Communication from the Commission to the European Parliament, the Council, the European Economic and Social Committee and the Committee of the Regions on Rare Diseases - Europe's challenges http://www.europeansources.info/record/communication-from-the-commission-to-the-european-parliament-the-council-the-european-economic-and-social-committee-and-the-committee-of-the-regions-on-rare-diseases-europes-challenges/

EUR-Lex: COM(2014)548: Follow the progress of this report through the decision-making procedure http://eur-lex.europa.eu/legal-content/EN/HIS/?uri=COM:2014:548:FIN

ESO: Background information: Council Recommendation of 8 June 2009 on an action in the field of rare diseases http://www.europeansources.info/record/council-recommendation-of-8-june-2009-on-an-action-in-the-field-of-rare-diseases/

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