A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance

Hageman, I.C., van Rooij, I.A., de Blaauw, I. et al. A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance. Orphanet J Rare Dis 18, 106 (2023). doi:10.1186/s13023-023-02719-0 

Rare disease patient registries are valuable for research and evaluation of clinical care, and an increasing number have emerged. However, registries need to be continuously evaluated for data quality and long-term sustainability to remain relevant for future use.

A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance