Natural History and Real-World Data in Rare Diseases: Applications, Limitations, and Future Perspectives.

ABSTRACT: Rare diseases represent a highly heterogeneous group of disorders with high phenotypic and genotypic diversity within individual conditions. Due to the small numbers of people affected, there are unique challenges in understanding rare diseases and drug development for these conditions, including patient identification and recruitment, trial design, and costs. Natural history data and real-world data (RWD) play significant roles in defining and characterizing disease progression, final patient populations, novel biomarkers, genetic relationships, and treatment effects. This review provides an introduction to rare diseases, natural history data, RWD, and real-world evidence, the respective sources and applications of these data in several rare diseases. Considerations for data quality and l

SUBMITTER: Liu J 

PROVIDER: S-EPMC10107901 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature