October 20, 2014
Since the European Commission’s Communication on Rare Diseases: Europe’s challenge of 2008 and the Council’s Recommendation on an action in the field of rare diseases of 2009, significant achievements have been accomplished and initiatives launched to improve rare disease diagnosis and care in EU Member States. The Commission Communication aimed to enhance recognition, support Member State policy and develop EU harmonization and regulation in the field of rare diseases. The Council’s Recommendation appealed to Member States to implement national plans on rare disease management and aimed to define, code and record rare diseases, increase research, build European Reference Networks, gather EU expertise, empower patient organizations and develop sustainability.
Earlier in September 2014, the Commission published its implementation report on the Commission Communication and Council Recommendation, outlining accomplishments and lessons learnt for further action. The Commission co-funded the EUROPLAN project and EUCERD Joint Action to help Member States develop, implement and evaluate their national plans and strategies for rare disease policy and classification. To date, sixteen Member States have proposed a national plan on rare diseases and a further seven are in the process of developing their strategy.
The Council Recommendation stipulates that Member States must establish clear and common definitions of rare diseases. Member States with national plans have adopted EU definitions of rare diseases and use the International Classification of Diseases ICD-9 or ICD-10 systems. Some Member States have begun introducing ORPHA codes in parallel, developed by the Orphanet Joint Action, since ICD-9 and ICD-10 do not include most rare diseases. To increase the presence of rare diseases in international nomenclature, the EUCERD Joint Action is contributing to the WHO ICD-11 draft.
Via its Seventh Framework Program for Innovation and Technology Development (FP7), the EU has funded some 120 multidisciplinary research projects on rare diseases. Projects such as E-RARE-2 coordinate and strengthen multidisciplinary and multi-national projects. Launched in 2011, IRDiRC’s 41-member consortium illustrates the EU’s ongoing commitment to promote international collaboration on rare disease research. The Commission aims to further harmonize research through a European Platform on Rare Diseases Registration, centralizing information on patient registries accessible to all stakeholders.
In accordance with Article 12 of Directive 2011/24/EU on the application of patients’ rights in cross-border healthcare and based on ten pilot projects, the Commission is developing European Reference Networks to establish collaborative centers of expertise on rare diseases. Pooling expertise from Member States into reference centers will help harmonize best practice, diagnostic and screening techniques, and patient care. The Commission also aims to facilitate access to orphan products that are not systematically approved in all Member States. Member States were invited to join the Mechanism of Coordinated Access to orphan medicinal products (MoCA) project, under the EU’s Platform on access to medicines in Europe, to increase cooperation between regulatory authorities and companies on the assessment of orphan medicinal products. The Medicine Evaluation Committee (MEDEV), the group of experts on reimbursement hosted by the European Social Insurance Platform (ESIP), offered to take forward a MoCA pilot project to improve access to orphan medicinal products in Europe.
The Commission is confident the Communication and Council Recommendation have reached their objectives to strengthen collaboration among EU Member States and with relevant stakeholders. This implementation report measures both achievements and future strategies to continue improving rare disease research and treatment, as well as the quality of life of patients and their families. While the recent advances presented in this report are encouraging, the Commission acknowledges the considerable efforts still required to ensure all rare disease patients are adequately cared for throughout the EU. The Commission intends to achieve this through the new Health Program and EU Research and Innovation Program Horizon 2020.