Up to 36 million people in the EU live with a rare disease. There are more than 6000 distinct rare diseases in the EU. So, whilst one rare disease may affect only a handful of patients, another may touch as many as 245 000. Around 80% of rare diseases are of genetic origin and, of those, 70% already start in childhood.
What is the EU doing?
The EU's strategic objective for rare diseases is to improve patient access to diagnosis, information and care. It assists in pooling scarce resources spread across the EU, enabling patients and professionals to share expertise and information.
The European response can best be characterised by a combination of key elements
- promoting the development of national rare diseases plans and strategies
- setting up and supporting European Reference Networks
- supporting the definition, codification and inventory of rare diseases
- supporting the designation and authorisation of orphan medicinal products
- building and broadening the knowledge base also through research
- empowering patient organisations
Within this context, the European Commission is focused on
- supporting Member States’ policies
- developing EU-level cooperation, coordination and regulation
- improving the recognition and visibility of rare diseases
European Reference Networks
European Reference Networks (ERNs) are virtual networks involving healthcare providers across Europe. They aim to facilitate discussion on complex and rare diseases and conditions that require highly specialised treatment.
The ERNs collaborate to review patients’ diagnosis and treatment through ‘virtual’ advisory panels of medical specialists across different disciplines, using a dedicated IT platform. They are also active in the areas of research, setting up registries, developing clinical guidelines, and sharing knowledge and expertise among health professionals and patient organisations.
The first 24 ERNs were launched in 2017, involving more than 900 highly-specialised healthcare units from over 300 hospitals in 26 Member States. As of January 2022, more than 600 new highly specialised hospital units joined the system, bringing the total number of ERN members to almost 1500.
European Platform for rare diseases registration
The Joint Research Centre, in collaboration with the Directorate-General for Health and Food Safety, has developed and manages the European Platform on Rare Disease Registration to cope with the fragmentation of rare disease data.
This is a focal point for the hundreds of rare diseases registries that exist across the EU. The Platform makes the data from these registries searchable and findable based on the European Rare Disease Registry Infrastructure. Its components include the European Directory of Registries, the Central Metadata Repository, and the pseudonymisation tool, provided to all registries joining the Platform.
The European Rare Disease Platform
- supports existing registries and the creation of new registries
- sets EU-level standards for rare disease data collection and data exchange
- provides training on the use of the tools and services offered
- operates the central registries of the European networks for congenital anomalies and cerebral palsy
Support for definition and codification
The EU has supported the development and work of ORPHANET, the portal for rare diseases and orphan drugs, since the launch of the Programme of Community Action on Rare Diseases (1999 – 2003).
Orphanet aims to provide high-quality information on rare diseases, and ensure equal access to knowledge for all stakeholders.
Orphanet also maintains the rare disease nomenclature known as ORPHAcode.
This codification system was identified as a best practice by the Steering Group on Health Promotion, Disease Prevention and Management of Non-Communicable Diseases, and its implementation supported via the RD Code project (2019-2021).
Orphan medicinal products
Orphan medicinal products are intended for the diagnosis, prevention or treatment of life-threatening or very serious conditions that affect no more than 5 in 10 000 people in the European Union.
The European Commission has already authorised more than 200 orphan medicines for the benefit of patients suffering from rare diseases. The sponsors responsible for these medicines benefit from incentives such as fee waivers for the regulatory procedures and a 10-year market exclusivity.
The EU Regulation on orphan medicinal products establishes a centralised procedure for the designation of orphan medicinal products and puts in place incentives for their research, development and marketing.
The legislation for medicines for rare diseases and for children was evaluated in 2020, and an impact assessment for revision of the legislation is currently ongoing.
Research into rare diseases
The EU has supported research in the field of rare diseases extensively through its research and innovation framework programmes. Over €2.4 billion have been made available under the 7th Framework Programme and Horizon 2020 to more than 440 multinational research projects in the area of rare diseases.
Horizon Europe (2021-2027), the new research and innovation funding programme, will continue to support these efforts. Notably, a European Partnership on rare diseases is expected to catalyse a systemic transformation in the area, with the goal of improving the quality of life for people living with a rare disease. It will develop diagnostics and treatments through multidisciplinary research and innovation programmes involving relevant stakeholders.
- Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products
- Communication on rare diseases: Europe's challenges COM(2008) 679 final
- Recommendation on an action in the field of rare diseases (2009/C 151/02)
- Implementation report on the Commission Communication and Council Recommendation on rare diseases