Definition of rare diseases in China and measurement of cumulative point prevalence based on Orphanet database
GUO Qi-xiang
LIU Yun-peng
ZHU Jia-zhen
YANG Yue
Abstract：Objective:The characteristics and epidemiological data of China's first and second lists of rare diseases were analyzed using Orphanet database to investigate the disease burden of rare diseases in China providing a basis for the formulation of relevant policies. Methods:207 rare diseases listed in two lists of rare disease of China were matched with the rare diseases in Orphanet database,and a database of point prevalence was established. Results:Among the 207 rare diseases in China's two lists of directories,991 diseases were in correspondence with those in Orphanet database,accounting for 15.7％ of the total diseases (6313 diseases) in the database. Based on the point prevalence data derived from the'Guidelines for the Diagnosis and Treatment of Rare Diseases in China' and Orphanet sources,the cumulative point prevalence of the two lists of rare diseases in China is estimated to be approximately 1.1％～1.6％,roughly affecting 15.26 to 23.11 million people in China. Conclusion:It is recommended to enhance the rare disease classification system and expand registration for various rare diseases to accurately grasp the epidemiological data of rare disease patients in China. This will facilitate precision diagnosis and treatment for rare disease patients,promote the development of innovative drugs,and drive policy optimization.
Keywords：list of rare diseaseOrphanet databasepoint prevalencepatient registration
Publication Date：2025-01-14
Online Publishing Date：2026-08-14(First online date of this platform, not the publication date of the document)
Pages：6( 6-11 )