The 2014 annual report on rare disease activities in Europe is now available
The annual report on the State of the Art of Rare Disease Activities in Europe is now available online. This extensive report, elaborated by the Scientific Secretariat of the EUCERD Joint Action, with the cooperation and input of the rare disease community, including Member State representatives of the EC Expert Group on Rare Diseases, provides a comprehensive overview of rare disease and orphan drug activities at both the European Union (EU) and Member State levels throughout 2013. The report includes EU Member States’ progress in developing and implementing a national plan/strategy for rare diseases, as recommended by the Council Recommendation on an Action in the Field of Rare Diseases.
By end 2013 - the deadline to elaborate national plans/strategies for rare diseases -, most EU Member States had submitted a plan/strategy to their national authorities. Sixteen countries have adopted a plan/strategy. France and Spain have implemented and assessed their first plan. As a top priority, most countries plan to identify and design centres of expertise for rare diseases. Many of these plans/strategies, however, have no dedicated budget for their actions, a result of the unfavourable economic context which may hinder the implementation of defined measures. The next challenge for EU Member States will be to implement and assess these plans, which the new Commission Expert Group on Rare Diseases will follow closely.
The year 2013 was not without highlights. The EUCERD completed its mandate with two new recommendations and one opinion adopted in 2013. Altogether, five recommendations and one opinion were adopted throughout EUCERD's mandate. A new EC Expert Group on Rare Diseases - replacing the EUCERD in January 2014 - will strive to reach its goals as successfully as the Committee did. Once again, Rare Disease Day was an acclaimed success in 2013, with 73 participating countries. The 2011 Cross-Border Healthcare Directive led to the 2014 publication of the Commission Delegated and Implementing Decisions concerning European Reference Networks.
The International Rare Disease Research Consortium (IRDiRC) constituted its Scientific Committees, ran the first IRDiRC conference in Dublin in April 2013 and published its policies and guidelines, all aimed to reach diagnosis of most rare diseases and 200 new therapies for rare diseases by 2020. Regarding orphan medicinal products, the EMA received 201 applications for Orphan Designation in 2013, the Committee on Orphan Medicinal Products adopted 136 positive opinions and the European Commission granted 136 orphan designations. Seven new orphan medicinal products received EU marketing authorisation in 2013.
The five-part report’s first volume provides an overview of rare disease activities in Europe. Additional individual country reports are available via the National resources link. These country reports provide up-to-date information concerning national activities on rare diseases. A synthesis of all 2013 activities is proposed in Part II: Key developments in the field of rare diseases in Europe in 2013. The report covers the following topics: development of centres of expertise; registries; genetic testing resources and activities; patient organisation activities; information resources; guidelines and recommendations; educational initiatives; research and funding mechanisms and participation in EU-level projects; rare disease conferences and events; orphan medicinal product incentives, availability, reimbursement and pricing policies; and specialised social services. Bibliographies, web addresses organised by country and rare disease national plan/strategy document are provided in the report links. Over one hundred contributors supported this report update.
The six volumes of the report are freely accessible via the EUCERD Joint Action website.