基于Orphanet数据库的中国罕见病界定及累积时点患病率测算  

Definition of rare diseases in China and measurement of cumulative point prevalence based on Orphanet database

作　　者：过其祥 刘云鹏 朱珈震 杨悦 GUO Qi-xiang;LIU Yun-peng;ZHU Jia-zhen;YANG Yue(School of Pharmaceutical Sciences,Tsinghua University,Beijing 100084,China;NMPA Key Laboratory for Research and Evaluation of Innovative Drug,Beijing 100084,China)

机构地区：[1]清华大学药学院,北京100084 [2]国家药品监督管理局创新药物研究与评价重点实验室,北京100084

出　　处：《中国新药杂志》2025年第1期6-11,共6页Chinese Journal of New Drugs

基　　金：国家自然科学基金资助面上项目(72374115)。

摘　　要：目的:利用Orphanet数据库分析我国第一批和第二批罕见病的特征及流行病学数据,研究我国罕见病疾病负担,为相关政策制定提供依据。方法:将我国2批罕见病目录中的207种罕见病与Orphanet数据库中的罕见病进行匹配,构建时点患病率数据库。结果:我国2批罕见病目录中的207种罕见病对应Orphanet数据库中991种疾病,占该数据库总疾病数(6 313种疾病)的15.7%。按照《中国罕见病诊疗指南》和Orphanet数据库来源的时点患病率数据估计,我国2批罕见病目录内疾病累积时点患病率约为1.1%~1.6%,粗略测算影响我国人口范围为1 526万~2 311万。结论:建议完善罕见病分类体系建设,扩展各类罕见病登记,以便准确掌握我国罕见病患者流行病学数据,推动罕见病患者的精准诊疗、创新药物研发和政策优化。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.

关 键 词：罕见病目录 Orphanet数据库 时点患病率 罕见病登记 

分 类 号：R95[医药卫生—药学]