摘要
目的 建立儿童罕见病目录,分析我国儿童罕见病治疗药品的现状及其医疗保障水平,提升我国儿童罕见病用药可及性的保障能力。方法 基于我国发布的两批罕见病目录,通过欧盟Orphanet数据库、美国食品药品管理局(FDA)孤儿药数据库及《儿童罕见病诊疗规范》筛选儿童罕见病;构建儿童罕见病治疗专用药药品目录,结合药智网药品中标价格数据及2024年国家基本医保目录,采用描述性统计方法分析药品类型、价格及医保覆盖情况,以及药品的年治疗费用。结果 我国罕见病目录中共纳入儿童罕见病151种(占比72.95%),涉及13种疾病系统。治疗儿童罕见病的专用药品共94种(以药品通用名计算)。43种药品在国外已上市而在我国尚未上市。价格分析显示,药品单元包装平均价格为6 113.53元,国家基本医保目录药品总体覆盖率为68.83%,但药品单价超7 000元的医保覆盖率仅为7.69%。治疗黏多糖贮积症的拉罗尼酶的年治疗费用高达454万元。结论 我国儿童罕见病治疗药品存在目录缺失、高价药品保障不足及自主创新薄弱等问题。建议建立儿童罕见病治疗药品目录,加速国外药品引进与国内创新药研发,完善医保儿童罕见病用药的覆盖与支付政策,以全面促进儿童罕见病用药可及性的提升。
Objective To establish a pediatric rare disease catalog,analyze the current status of therapeutic drugs and their coverage of the medical insurance in China,and propose strategies to enhance drug accessibility.Methods Pediatric rare diseases were identified from China’s two national rare disease catalogs combined with the EU Orphanet database,US FDA orphan drug database,and the Diagnosis and Treatment Standards for Rare Diseases in Children.We created a specialized drug catalog for pediatric rare diseases,then analyzed drug types(ATC classification),pricing,and medical insurance coverage using descriptive statistics based on Yaozhi.com drug bidding prices and the 2024 Drug of List National Basic Medical Insurance(NBMIDL).Drug affordability was assessed through annual treatment cost calculations.Results The national catalogs included 151 pediatric rare diseases(72.95%of listed conditions),spanning 13 disease systems.We identified 94 dedicated orphan drugs(by generic name)for these conditions,among which 43 were approved internationally but unavailable in China.The average unit price per package was 6113.53 yuan.Overall NBMIDL coverage was 68.83%,but drugs priced above 7000 yuan per unit had only 7.69%coverage.Annual treatment costs reached 4.54 million for laronidase(mucopolysaccharidosis).Conclusions Critical gaps persist in China’s pediatric rare disease treatment landscape,including catalog deficiencies,inadequate coverage for high-cost drugs and insufficient domestic innovation.It is recommended to establish a list of orphan drugs for pediatric rare diseases,accelerate the import of foreign drugs and the local innovative drugs through policy incentives,optimizing medical insurance reimbursement mechanisms for pediatric rare disease drugs to comprehensively improve therapeutic accessibility.
作者
侯誉
热伊莎木·艾力
周丽
王雅琴
仇丽茹
刘东
龚时薇
张文婷
HOU Yu;REYISHAMU Aili;ZHOU Li;WANG Yaqin;QIU Liru;LIU Dong;GONG Shiwei;ZHANG Wenting(School of Pharmacy,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430030,China;Department of Pharmacy,the First College of Clinical Medical Science,China Three Gorges University·Yichang Central People’s Hospital,Yichang 443000,China;Department of Pediatric Hematology,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430030,China;Department of Pediatric Nephrology,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430030,China;Department of Pharmacy,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430030,China)
出处
《医药导报》
北大核心
2025年第12期1962-1970,共9页
Herald of Medicine
基金
国家自然科学基金资助项目(70903025、71373089)
国家卫生健康委医院管理研究所医院药学高质量发展研究项目(NIHAYS2440)。
关键词
儿童罕见病
罕见病药品目录
药品ATC分类
药品价格水平
国家基本医疗保险药品覆盖率
Rare diseases in children
List of orphan drugs
ATC classification of drugs
Drug price level
Drug coverage rate of national basic medical insurance
