罕见病用药保障现状与挑战  

Current Status and Challenges of Guarantee for Rare Disease Drugs

作　　者：左玮[1] 张波[1,3] 张抒扬[2,3] ZUO Wei;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155-163,共9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)。

摘　　要：近年来,国家和政府的高度重视有效推动了中国罕见病诊疗和保障工作。但全球范围内,仅5%的罕见病存在有效治疗方法。罕见病药物可及性差仍是中国罕见病领域存在的主要困境之一,是导致患者“治疗难”和“用药难”主要原因。罕见病药物保障覆盖罕见病药物研发、生产、流通、使用、支付保障、技术创新等多个环节,涉及供给、需求、政策决策等多个主体,其复杂性不同于普通药物。本文总结国内外罕见病药物保障政策,以及目前罕见病药物治疗的技术和方法,提出存在的问题和挑战,以期对未来罕见病药物保障和技术的创新和发展做出展望。In the past few years,China has pushed forward the availability of diagnosis and treatment of rare diseases.However,only 5%of patients receive effective treatment in the world.In China,the difficulties in having access to drugs against rare disease is still one of the major problems in medical service and the main cause of patients complaints for"difficulties in getting treatment"and"difficulties in getting drugs".The availability of the medication for rare disease is a coordinating mechanism involving multiple such points in the chain as in research and development,production,circulation,usage,way of payment,technology innovation and so forth.It also relates to the actors in supply,demand,and policy decisionmakers.The complexity is different from that of common drugs.This article provides a brief overview of the current status of availability policies of medication for rare diseases in China and in other countries,as well as the technology in drug development.In addition,the article points out the problems,challenges and expectations for future possibilities.

关 键 词：罕见病 孤儿药 用药保障 药品支付 审评审批 

分 类 号：R95[医药卫生—药学]