Newsletter 231 - Rare diseases

Health-EU newsletter 231 - Focus

Connecting the dots to get a clearer picture: the European Platform on Rare Disease Registration

Simona Martin, Scientific Officer at the European Commission Joint Research Centre, Directorate F – Health, Consumers and Reference Materials, talks about the new European Platform on Rare Disease Registration launched at the occasion of Rare Disease Day on February 28.

Why was the European Platform on Rare Disease Registration set up?

The Platform, developed by the Commission's Joint Research Centre in collaboration with the Directorate General for Health and Food Safety, was set up to cope with the enormous fragmentation of rare disease patients data, contained in hundreds of registries across Europe.

The Platform makes it easy to find data on RD registries, facilitates data sharing between registries and sets EU-level standards for RD data collection and exchange. Providing the European RD Registry Infrastructure, it also supports existing registries and the creation of new ones. For many years, these needs were unmet.

Is the Platform therefore a registry of patient registries?

Not only. One component of the Platform is the European Directory of Registries, which provides an overview of the participating registries with their main characteristics and description. It’s a one-stop shop for finding and contacting registries of interest. Each registry thus gains visibility, the value of each registry's information is boosted and existing patients’ data can get extended use and re-use. Other important components that should be mentioned are the Central Metadata Repository and the pseudonymisation tool.

Why is this important?

More than 30 million citizens live with a rare disease in the EU, and they deserve to get better diagnosis and treatment. A disease is defined as 'rare' when it affects fewer than 5 people in 10,000, but a multitude of different rare diseases exist, more than 6,000. The Platform will act as a knowledge-generating centre helping healthcare providers, researchers, patients and policy-makers to improve patient care and healthcare planning. Studies and research will also be facilitated and the Platform will support the work of the European Reference Networks, which were founded on the principle that knowledge should travel, not the patients.

Why is this supported by the EU?

Based on the characteristics of rare diseases, no single institution and in most cases no single Member State has enough patients to conduct meaningful studies. That's why an initiative at EU level has a high added-value. The Commission has supported rare disease activities for more than 20 years, fostering network structures, developing policy frameworks together with Member States, supporting Member States in implementing plans and learning from each other, and encouraging innovative approaches, like the European Reference Networks. Codification, registration and inventory of rare diseases are among the key elements in this European response. Our new platform fits really well within this broader picture.

What can we expect in the future?

The Joint Research Centre and the Directorate General for Health and Food Safety will continue to work to improve the recognition and visibility of rare diseases, support policies in the Member States and develop cooperation and coordination for rare diseases at EU level. The Platform is a huge step forward. We know it is going to be a valuable resource and will help improve the lives of rare disease patients.