Recommendations for Improving the Quality of Rare Disease Registries

Rare diseases (RD) patient registries are powerful instruments that help develop clinicalresearch, facilitate the planning of appropriate clinical trials, improve patient care, and supporthealthcare management. They constitute a key information system that supports the activities ofEuropean Reference Networks (ERNs) on rare diseases. A rapid proliferation of RD registries hasoccurred during the last years and there is a need to develop guidance for the minimum requirements,recommendations and standards necessary to maintain a high-quality registry. In response to theseheterogeneities, in the framework of RD-Connect, a European platform connecting databases, registries,biobanks and clinical bioinformatics for rare disease research, we report on a list of recommendations,developed by a group of experts, includingmembers of patient organizations, to be used as a frameworkfor improving the quality of RDregistries. This list includes aspects of governance, Findable, Accessible,Interoperable and Reusable (FAIR) data and information, infrastructure, documentation, training, andquality audit. The list is intended to be used by established as well as new RD registries. Further workincludes the development of a toolkit to enable continuous assessment and improvement of theirorganizational and data quality.