中国罕见病用药现状研究

Study on current medication situation of rare disease in China

目的分析我国罕见病和孤儿药领域的用药现状及目前存在的问题。方法查阅检索国内罕见病及孤儿药相关诊治、卫生服务可及性的文本文献,对比分析美国等对罕见病和孤儿药的界定及配套政策,梳理中国罕见病卫生服务可及性。结果截至2016年3月16日,美国已上市的商品名孤儿药共431个,其中172个品种(39.9%)在我国有注册批准信息;93个品种(54.07%)被遴选进入《国家基本医疗保险和工伤保险药品目录》,其中甲类药品品种22个,报销比例较高,乙类药品品种71个,报销比例低;有79个品种(45.93%)未列入医保或医保不覆盖罕见病适应证。我国孤儿药的可负担性较差,极易使患者及其家庭陷入贫困。结论目前我国对于罕见病的诊断和治疗还处于起步阶段,急需推动立法并设立专门机构,鼓励孤儿药研发、仿制,并进行相应协调,提高罕见病医疗及社会保障水平。

Objective To provide an overview of the availability, accessibility and affordability of orphan drugs and to analyze the current medication situation of rare diseases in China. Methods Availability was assessed by the extent to which orphan drugs were marketed in China with a comparison to orphan drugs in international markets, such as the U.S. The affordability of orphan drugs was calculated using hospital dispensary prices and analyzed under the Chinese basic medical insurance system. Results Up to March 16, 2016, orphan drugs approved in the U.S. had 39.9% market availability in China. Among them, 93 orphan drugs（54.07%） were selected into the state medicine catalogue for basic medical and work-related injury insurance, 22 types were class A drugs with higher reimbursement proportion, 71 types were class B drugs with low reimbursement proportion; 79 orphan drugs（45.93%） were not covered by medicare or without the indications of rare diseases. Orphan drugs were unaffordable for the most of residents in China. Conclusion The Chinese government can take more responsibility for improving the availability and affordability of orphan drugs through setting up incentive policies and public platforms for sharing of orphan drug information.