何山, 高仕奇, 何欣悦, 刘鹏, 金晔, 李相言, 朱以诚, 陈丽萌, 朱卫国, 张抒扬. 中国罕见病领域新进展(2020—2021)[J]. 协和医学杂志, 2022, 13(1): 39-45. DOI: 10.12290/xhyxzz.2021-0248
引用本文: 何山, 高仕奇, 何欣悦, 刘鹏, 金晔, 李相言, 朱以诚, 陈丽萌, 朱卫国, 张抒扬. 中国罕见病领域新进展(2020—2021)[J]. 协和医学杂志, 2022, 13(1): 39-45. DOI: 10.12290/xhyxzz.2021-0248
HE Shan, GAO Shiqi, HE Xinyue, LIU Peng, JIN Ye, LI Xiangyan, ZHU Yicheng, CHEN Limeng, ZHU Weiguo, ZHANG Shuyang. Advances in Rare Diseases in China (2020—2021)[J]. Medical Journal of Peking Union Medical College Hospital, 2022, 13(1): 39-45. DOI: 10.12290/xhyxzz.2021-0248
Citation: HE Shan, GAO Shiqi, HE Xinyue, LIU Peng, JIN Ye, LI Xiangyan, ZHU Yicheng, CHEN Limeng, ZHU Weiguo, ZHANG Shuyang. Advances in Rare Diseases in China (2020—2021)[J]. Medical Journal of Peking Union Medical College Hospital, 2022, 13(1): 39-45. DOI: 10.12290/xhyxzz.2021-0248

中国罕见病领域新进展(2020—2021)

Advances in Rare Diseases in China (2020—2021)

  • 摘要: 2020—2021年, 我国罕见病领域取得突出进展。罕见病相关政策方面, 国家层面已建立罕见病国家重点实验室, 并筹建国家罕见病质控中心, 对罕见病药物实行零关税; 地方层面不断扩大纳入医保的罕见病范围。罕见病用药方面, 共14种罕见病药物被纳入医保, 13种罕见病药物在国内获批上市, 并有多种罕见病用药被纳入优先审评或临床试验默示许可。罕见病患者登记与流行病学研究方面, 我国已启用国家罕见病注册系统, 并建立罕见病患者登记制度; 首个重症肌无力流行病学调查结果公布, 溶酶体贮积症筛查项目启动, 首个软骨发育不全队列研究正式启动。在官方政策和渠道之外, 罕见病患者组织和信息平台均发挥重要补充作用。

     

    Abstract: In 2020 and 2021, great progress was made in the field of rare diseases in China. In the aspect of rare disease related policies, China built the National Key Laboratory of Rare Diseases and prepared for the National Quality Control Center of Rare Diseases. China has granted zero tariffs on raw materials and drugs for rare diseases since 2021, and the number of rare diseases included in health insurance in local areas has increased. In the aspect of drugs for rare disease, during the past two years, 14 drugs for rare diseases were included in the system of national health insurance; 13 were approved by China National Medical Products Administration; and more gained the qualification for prior review. In the aspect of patient registration and epidemiological study of rare diseases, China enabled the National Rare Diseases Registry System and set up the registry regime. The first epidemiological study of myasthenia gravis in China was published. The screening programof lysosomal storage syndrome and the first cohort study on achondroplasia in China were started. Besides the official policies and channels, organizations and informational platforms for patients also played an important role in the field of rare diseases.

     

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