基于《第二批罕见病目录》的罕见病药物目录和药物可及性研究  

Study on Drug List and Accessibility of Rare Diseases Based on the China′s Second List of Rare Diseases

作　　者：刘清扬 刘鑫[1] 左玮[1] 王少红 张波[1,3] 张抒扬[2,3] LIU Qingyang;LIU Xin;ZUO Wei;WANG Shaohong;ZHANG Bo;ZHANG Shuyang(Department of Pharmacy,National Rare Disease Medical Quality Control Center,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Cardiology,National Rare Disease Medical Quality Control Center,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;State Key Laboratory of Complex Severe and Rare Diseases,National Rare Disease Medical Quality Control Center,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医院药剂科,北京100730 [2]中国医学科学院北京协和医院心内科,北京100730 [3]中国医学科学院北京协和医院疑难重症及罕见病全国重点实验室、国家罕见病医疗质量控制中心,北京100730

出　　处：《罕见病研究》2024年第2期195-201,共7页Journal of Rare Diseases

基　　金：中央高水平医院临床科研业务费(2022-PUMCH-B-059);中国医学科学院医学与健康科技创新工程(2021-I2M-1-003)。

摘　　要：目的本研究将梳理《第二批罕见病目录》的罕见病药物,为罕见病药物治疗的管理提供参考。方法基于中国《第二批罕见病目录》,以中国药品说明书、美国食品药品监督管理局(FDA)、欧洲药品管理局(EMA)批准用于治疗上述疾病的药物为标准,梳理形成中国第二批罕见病药物目录,并对药物的可及性、国产化情况及国家医保目录覆盖情况等进行分析。结果截至2023年12月31日,从疾病角度分析,《第二批罕见病目录》共37种疾病在国内有说明书适应证批准的药物,另有10种疾病有美国FDA或EMA上市并在国内获得批准文号的药物,但在国内为超说明书用药。从药物角度分析,国内有55种药物的说明书适应证批准用于治疗《第二批罕见病目录》疾病,另有22种药物在美国FDA或EMA上市并在国内获得批准文号,但在国内为超说明书用药。上述国内已获批罕见病适应证或已获得批准文号的药物,39种药物至少1种剂型有国产批准文号,覆盖30种罕见病;37种药物用于至少1种罕见病纳入国家医保目录并在报销范围内,覆盖29种罕见病。结论本研究总结了《第二批罕见病目录》的罕见病药物。中国上市的罕见病药物数量及罕见病药物覆盖的疾病种类快速增加,罕见病药物国产化比例及纳入医保目录报销的比例不断提高。Objective This study aims to sort out the rare disease drugs in the China′s Second List of Rare Diseases,to provide reference for the management of rare disease drug treatment.Methods Up to December 31,2023,based on the China′s Second List of Rare Diseases,we sorted out the drugs approved in China with the drug label,or approved by the U.S.Food and Drug Administration(FDA)and the European Medicines Agency(EMA)for the treatment of the above diseases,and developed the second batch of rare disease drug catalog in China.The accessibility,localization and coverage of the national medical insurance were also analyzed.Results From the point of view of diseases,a total of 37 diseases in the China′s Second List of Rare Diseases have drug indications approved in China,and 10 diseases have drugs listed by the U.S.FDA/EMA and approved in China,but for offlabel use.From the point of view of drugs,there are 55 drug indications approved for the treatment of the China′s Second List of Rare Diseases,and 22 drugs listed in the U.S.FDA/EMA and approved in the China,but for offlabel use.Among the abovementioned drugs with domestic approved rare disease indications or approved numbers,39 drugs have at least one domestic approval number for a dosage form,covering 30 rare diseases;37 drugs used for at least one rare disease are included in the national medical insurance catalog and are covered by reimbursement,covering 29 rare diseases.Conclusions The list of rare disease drugs in the China′s Second List of Rare Diseases was established.The number of rare disease drugs and covered diseases approved by China and the U.S.FDA/EMA has increased,and the number of rare disease drugs and covered diseases that are localized and included in the medical insurance catalog has also continued to increase.

关 键 词：罕见病 孤儿药 可及性 第二批罕见病目录 

分 类 号：R94[医药卫生—药剂学] R961[医药卫生—药学]