The aim of this platform is to make data from rare disease registries searchable at an EU level and to standardize data collection and exchange in order to solve the problem of fragmentation of rare disease data currently scattered amongst hundreds of rare disease patient registries across Europe (that often have a too small number of patients to reach critical mass for scientific research and studies alone). The platform will maximise the value of each registry’s information so that the European Reference Networks (ERNs) and other stakeholders can utilise the combined pool of rare disease patient data in order to improve diagnosis and treatment for all rare disease patients in Europe.
The platform consists of the European RD Registry Infrastructure (ERDRI), which contains tools that render the data of existing registries FAIR (Findable, accessible, interoperable, reusable) and supports the creation of new registries; the set of common data elements for Rare Diseases Registration; and a data repository composed of the European RD Registry Data Warehouse (under preparation), the JRC-EUROCAT Central Registry and the JRC-SCPE Central Registry. The Platform’s tools will be available to all registries, free of charge. Trainings will also be offered soon and interested parties can find information about these trainings on the website.