基于Orphadata数据库的中国罕见病界定及累积时点患病率测算  

Research on definition of rare diseases in China and estimation of cumulative point prevalence based on Orphadata

作　　者：李壮琪 杨浦 杨悦 LI Zhuang-qi;YANG Pu;YANG Yue(School of Pharmaceutical Science,Tsinghua University,Beijing 100084,China;National Medical Products Administration 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》2022年第24期2422-2428,共7页Chinese Journal of New Drugs

摘　　要：目的:利用Orphadata数据库,分析中国第一批罕见病的特征及流行病学数据,研究罕见病科学界定,推动罕见病相关政策制定。方法:将中国121种罕见病与Orphadata数据库中的罕见病进行对应,构建121种罕见病的时点患病率数据库。结果:121种罕见病全部能够与Orphadata数据库对应,中国第一批罕见病累积时点患病率为0.24%~1.50%,粗略测算影响中国人口范围在341万~2121万之间。结论:建议将中国罕见病官方界定为患病率低于0.40‰的疾病,及时更新罕见病目录并建立罕见病药物和医疗器械资格认定制度,建立全国性罕见病患者登记协作平台,准确掌握中国罕见病患者流行病学数据。Objective:To analyze the characteristics and epidemiological data of the first batch of rare disease in China using Orphadata database,so as to support the formulation of rare disease policies.Methods:The 121 rare diseases were compared with the diseases in the Orphadata,and the cumulative point prevalence was calculated.Results:All 121 rare diseases corresponded to the Orphadata.The cumulative point prevalence of rare diseases in China was 0.24%~1.50%,and a rough estimate of the affected Chinese population ranged from 3.41 million to 21.21 million.Conclusion:It is recommended to officially define China’s rare diseases with a prevalence of<0.40‰,timely update the rare disease catalogue and establish a designation system for rare diseases drugs and medical devices,establish a national rare diseases patient registration platform,and accurately grasp the epidemiological data of rare disease patients in China.

关 键 词：第一批罕见病目录 Orphadata 测算 比较研究 

分 类 号：R95[医药卫生—药学]