FAIRification of patient registries

EJP-RD : Tool for the FAIRification of patient registries

The European Joint Programme on Rare Disease (EJP-RD) is working to make registries for rare diseases FAIR (Findable, Accessible, Interoperable, Reusable). In this context, the Vascular Anomalies (VASCA) registry has been jointly designed by Radboudumc, LUMC and CastorEDC and led by VASCA Working Group Co-Chair and VASCERN Registry Group Chair, Prof. Leo Schultze Kool. This is one of the first FAIR registries to have implemented the implement European standards for Common Data Elements (CDEs) for rare diseases registries.

To help other ERNs create eCRFs (electronic case report forms) from a template rather than scratch, the VASCA team have made available a CDE codebook including mappings of CDEs to ontologies has been developed by Radboudumc and Amsterdam UMC. This codebook also includes identifier/code from the EJP RD CDEs Semantic Model to improve interoperability. The codebook can be used via the iCRF Generator Tool, that can be implemented by several major EDC software providers. This will thus enable data to be integrated from registries built by different software providers.