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;
HE Shan;GAO Shiqi;HE Xinyue;LIU Peng;JIN Ye;LI Xiangyan;ZHU Yicheng;CHEN Limeng;ZHU Weiguo;ZHANG Shuyang;Department of Cardiology, Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College;State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College;Department of Neurology, Peking Union Medical College Hospital,Chinese Academy of Medical Sciences &

• 1:中国医学科学院北京协和医院心内科
• 2:中国医学科学院北京协和医院疑难重症及罕见病国家重点实验室
• 3:中国医学科学院北京协和医院神经科
• 4:中国医学科学院北京协和医院肾内科

摘要(Abstract)：

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。
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.

关键词(KeyWords)： 罕见病;中国;政策;罕见病用药;流行病学
rare disease;China;policy;rare disease drugs;epidemiology

Abstract:

Keywords:

基金项目(Foundation): 国家重点研发计划（2016Yfc0901501,2016Yfc0905102）~~

作者(Authors): 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;
HE Shan;GAO Shiqi;HE Xinyue;LIU Peng;JIN Ye;LI Xiangyan;ZHU Yicheng;CHEN Limeng;ZHU Weiguo;ZHANG Shuyang;Department of Cardiology, Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College;State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College;Department of Neurology, Peking Union Medical College Hospital,Chinese Academy of Medical Sciences &

参考文献(References)：

• [1] Gunne E,Mcgarvey C,Hamilton K,et al.A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland[J].Orphanet J Rare Dis,2020,15:311.
• [2] 杨殿政，许文秀，李壮琪，等.罕见病及罕见病用药械法律界定研究[J].中国新药杂志，2020,29:2647- 2653.Yang DZ,Xu WX,Li ZQ,et al.Research on the legal definition of rare diseases and drugs and devices for rare diseases[J].Zhongguo Xinyao Zazhi,2020,29:2647- 2653.
• [3] 中华人民共和国中央人民政府.中共中央国务院关于深化医疗保障制度改革的意见 [EB/OL].(2020- 02- 25).[2021- 03- 05].http://www.gov.cn/zhengce/2020- 03/05/content_5487407.htm.
• [4] 中华人民共和国中央人民政府.科技部关于批准建设疑难重症及罕见病国家重点实验室的通知 [EB/OL].(2020- 09- 29) [2021- 10- 26].http://www.gov.cn/zheng ce/zhengceku/2020- 10/26/content_5554310.htm.2020- 09- 29.
• [5] 中华人民共和国中央人民政府.国务院关税税则委员会关于2021年关税调整方案的通知 [EB/OL].(2020- 12- 12).[2021- 10- 23].http://www.gov.cn/zhengce/zheng ceku/2020- 12/23/content_5572511.htm.
• [6] 北京市医疗保障局.关于将重性精神病门诊治疗等纳入本市基本医疗保险门诊特殊疾病范围的通知[EB/OL].(2020- 09- 10) [2021- 09- 18].http://ybj.beijing.gov.cn/zwgk/2020_zcwj/202009/t20200918_2065 279.html.
• [7] 山东省医疗保障局.关于进一步完善我省大病保险制度的通知[EB/OL].(2020- 11- 27)[2021- 12- 14].http://ybj.shandong.gov.cn/art/2020/12/14/art_113602_1013 8619.html.
• [8] 石家庄市医疗保障局.关于将肺动脉高压纳入门诊特殊病管理的通知 [EB/OL].(2020- 11- 19) [2021- 11- 29].http://ylbzj.sjz.gov.cn/col/1586833331858/2020/10/29/1603957202192.html.
• [9] 内蒙古自治区民政厅.关于印发《2020年内蒙古自治区重特大疾病慈善医疗救助实施方案》的通知 [EB/OL].(2020- 09- 02) [2021- 09- 08].http://www.nmg.gov.cn/zwgk/bmmsxxgk/zzqzfzcbm/mzt/fdzdgknr/202012/t202012 08_330263.html.
• [10] 国家医疗保障局，人力资源和社会保障部.关于印发《国家基本医疗保险、工伤保险和生育保险药品目录(2020年)》的通知 [EB/OL].(2020- 12- 25)[2021- 12- 06].http://www.gov.cn/zhengce/zhengceku/2020- 12/28/content_5574062.htm.
• [11] 中华人民共和国人力资源和社会保障部.关于印发《国家基本医疗保险、工伤保险和生育保险药品目录(2021年)》的通知[EB/OL].(2021- 12- 03)[2021- 12- 06].http://www.mohrss.gov.cn/xxgk2020/fdzdgknr/shbx_4216/gsbx/202112/t2021 1203_429397.html.
• [12] 国家医疗保障局.国家医疗保障局对十三届全国人大三次会议第8753号建议的答复 [EB/OL].(2020- 09- 22) [2021- 10- 19].http://www.nhsa.gov.cn/art/2020/10/19/art_26_3748.html.
• [13] 中华人民共和国中央人民政府.国家医疗保障局关于公示《2020年国家医保药品目录调整通过形式审查的申报药品名单》的公告[EB/OL].(2020- 09- 18) [2021- 09- 18].http://www.nhsa.gov.cn/module/download/down file.jsp?classid=0&filename=3c56cb23c31246d78fab314 bf79f2cb1.pdf.
• [14] Chan AYL,Chan VKY,Olsson S,et al.Access and Unmet Needs of Orphan Drugs in 194 Countries and 6 Areas:A Global Policy Review With Content Analysis[J].Value Health,2020,23:1580- 1591.
• [15] 路娜娜，徐伟，李赛赛.中日韩罕见病药品价格水平对比研究[J].中国卫生经济，2020,39:84- 88.Lu NN,Xu W,Li SS.Comparative Study on the Price Level of Rare Disease Drugs in China,Japan and South Korea[J].Zhongguo Weisheng Jingji,2020,39:84- 88.
• [16] Dyson JK,Beuers U,Jones DEJ,et al.Primary sclerosing cholangitis[J].Lancet,2018,391:2547- 2559.
• [17] Feng S,Liu S,Zhu C,et al.National Rare Diseases Registry System of China and Related Cohort Studies:Vision and Roadmap[J].Hum Gene Ther,2018,29:128- 135.
• [18] 中国国家罕见病注册系统.罕见病临床队列研究项目第110次统计周报[EB/OL].(2021- 01- 04) [2021- 11- 04].https://www.nrdrs.org.cn/app/rare/rare_news.html?article_id=40288129766936b90176ccd034fb72bc.
• [19] 国家卫生健康委办公厅.关于建立全国罕见病诊疗协作网的通知 [EB/OL].(2019- 02- 12) [2021- 02- 15].http://www.nhc.gov.cn/yzygj/s7659/201902/3a8228589bf 94e6d9356008763387cc4.shtml.
• [20] 邱雪平，刘煜敏，潘振宇.罕见病病例诊疗信息登记管理体系构建[J].中华医院管理杂志，2020,36:931- 933.Qiu XP,Liu YM,Pan ZY.Construction of the registration management system for medical information of rare disease cases[J].Zhonghua Yiyuan Guanli Zazhi,2020,36:931- 933.
• [21] Chen J,Tian DC,Zhang C,et al.Incidence,mortality,and economic burden of myasthenia gravis in China:A nationwide population-based study[J].Lancet Reg Health West Pac,2020,5:100063.
• [22] Dong D,Chung RY,Chan RHW,et al.Why is misdia-gnosis more likely among some people with rare diseases than others?Insights from a population-based cross-sectional study in China[J].Orphanet J Rare Dis,2020,15:307.
• [23] Li X,Lu Z,Zhang J,et al.The urgent need to empower rare disease organizations in China:an interview-based study[J].Orphanet J Rare Dis,2020,15:282.
• [24] 刘立立，赖雪峰，许璐，等.基于微信公众号的罕见病健康信息环境的现况调查[J].中华流行病学杂志，2020,41:446- 451.Liu LL,Lai XF,Xu L,et al.A cross-sectional study on current status of rare disease related health information based on WeChat official accounts in China[J].Zhonghua Liuxingbingxue Zazhi,2020,41:446- 451.
• [25] 刘立立，赖雪峰，刘檀馨，等.基于微信公众号的神经系统罕见病相关治疗信息质量评价[J].中华疾病控制杂志，2020,24:1321- 1326.Liu LL,Lai XF,Liu TX,et al.Quality assessment of the therapeutic health information of rare neurological diseases on WeChat official account[J].Zhonghua Jibing Kongzhi Zazhi,2020,24:1321- 1326.