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

ABSTRACT: Patient registries serve to overcome the research limitations inherent in the study of rare diseases, where patient numbers are typically small. Despite the value of real-world data collected through registries, adequate design and maintenance are integral to data quality. We aimed to describe an overview of the challenges in design, quality management, and maintenance of rare disease registries.A systematic search of English articles was conducted in PubMed, Ovid Medline/Embase, and Cochrane Library. Search terms included "rare diseases, patient registries, common data elements, quality, hospital information systems, and datasets". Inclusion criteria were any manuscript type focused upon rare disease patient registries describing design, quality monitoring or maintenance. Biobanks and dru

SUBMITTER: Hageman IC 

PROVIDER: S-EPMC10163740 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature