Design and Application of Real-World Research on Rare Diseases
MA Nan
WANG Kaijuan
Abstract：The low prevalence,heterogeneity,and inadequate understanding of the natural history of rare diseases frequently present feasibility challenges to rare disease research.Real-world research,by means of in-depth mining of routine clinical data,has evolved into a core paradigm for generating clinical evidence in rare diseases and is increasingly being embraced by regulatory authorities to inform drug development and regulatory decision-making processes.This article systematically reviews the data sources,innovative study design methodologies,and progress in regulatory applications of real-world research on rare diseases.Furthermore,it prospects the development directions of artificial intelligence integration and data standardization,thereby providing references for clinical epidemiologists in rare diseases.
Keywords：rare diseasesreal-world researchobservational study designexperimental study design
Publication Date：2026-01-13
Online Publishing Date：2026-09-12(First online date of this platform, not the publication date of the document)
Pages：5( 1-5 )