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Retrospective on Establishing Rare Diseases Medical Service System and Research Platform in China
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摘要: 罕见病是指患病率很低的疾病，是一种重大的社会公共卫生问题，其诊断和治疗具有重大挑战。我国自“十三五”期间开始全面提速针对罕见病及罕见病患者的政策保障和科学研究，通过建立罕见病目录、推出一系列政策加速罕见病药物研发，提升我国罕见病规范化诊疗能力。通过建立国家罕见病注册登记系统，摸清罕见病疾病负担，促进罕见病科学研究。Abstract: Rare diseases refer to diseases characterized by very low prevalence rate but causing serious public health problem in the society. The diagnosis and treatment of the diseases pose great challenges.During the period of 13th Five-Year, China has accelerated the pace in all aspects targeting on policy support and scientific research in the rare diseases and on patients having the diseases. The efforts include establishing the cataglog for rare disease, introducing a series of policies to accelerate the R & D of drugs, upgrading the standardization of the diagnosis and treatment competences and so forth. In addtion, the establishment of National Rare Diseases Registry System(NRDRS) has been instrumental in knowing the burden of the diseases and enhancing the scientific research to rare diseases.
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Key words:
- rare diseases /
- registry system /
- multiple discipline team
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[1] Schieppati A, Henter JI, Daina E, et al. Why rare diseases are an important medical and social issue[J]. Lancet, 2008, 371: 2039-2041. doi: 10.1016/S0140-6736(08)60872-7 [2] Attwood MM, Rask-Andersen M, Schiöth HB. Orphan drugs and their impact on pharmaceutical development[J]. Trends Pharmacol Sci, 2018, 39: 525-535. doi: 10.1016/j.tips.2018.03.003 [3] 丁洁, 王琳. 中国罕见病研究报告(2018)[R]. 北京: 中国医药科技出版社, 2018. [4] 黄如方, 邵文斌. 2019年中国罕见病药物可及性报告[R]. 上海: 寇德罕见病发展中心, 2019. [5] 郭健, 吕浩涵, 李杰, 等. 中国国家罕见病注册系统架构和数据质量控制及管理流程[J]. 中国数字医学, 2021, 16: 17-22. https://www.cnki.com.cn/Article/CJFDTOTAL-YISZ202101005.htm [6] 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. -
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