郭健, 刘鹏, 荆志成, 刘建民, 程惊秋, 丁洁, 顾卫红, 陈丽萌, 朱以诚, 张抒扬. 中国国家罕见病注册系统建设及应用[J]. 罕见病研究, 2022, 1(1): 7-12. DOI: 10.12376/j.issn.2097-0501.2022.01.002
引用本文: 郭健, 刘鹏, 荆志成, 刘建民, 程惊秋, 丁洁, 顾卫红, 陈丽萌, 朱以诚, 张抒扬. 中国国家罕见病注册系统建设及应用[J]. 罕见病研究, 2022, 1(1): 7-12. DOI: 10.12376/j.issn.2097-0501.2022.01.002
GUO Jian, LIU Peng, JING Zhicheng, LIU Jianmin, CHENG Jingqiu, DING Jie, GU Weihong, CHEN Limeng, ZHU Yicheng, ZHANG Shuyang. Construction and Application of National Rare Diseases Registry System of China[J]. Journal of Rare Diseases, 2022, 1(1): 7-12. DOI: 10.12376/j.issn.2097-0501.2022.01.002
Citation: GUO Jian, LIU Peng, JING Zhicheng, LIU Jianmin, CHENG Jingqiu, DING Jie, GU Weihong, CHEN Limeng, ZHU Yicheng, ZHANG Shuyang. Construction and Application of National Rare Diseases Registry System of China[J]. Journal of Rare Diseases, 2022, 1(1): 7-12. DOI: 10.12376/j.issn.2097-0501.2022.01.002

中国国家罕见病注册系统建设及应用

Construction and Application of National Rare Diseases Registry System of China

  • 摘要: 罕见病已成为中国面临的重大临床医学与公共卫生挑战,积极开展罕见病研究是应对罕见病疾病负担的最有效措施之一。然而,罕见病病种繁多、对疾病相关知识的认识不足、单病种患者数较少且居住分散的特点极大地限制了中国罕见病研究的发展。近年来,越来越多的学者认识到患者注册登记是了解罕见病自然史、积累罕见病病例、采集疾病信息最有效、最方便的措施。目前,世界主要发达国家和地区已经通过开展罕见病患者注册登记研究来支持罕见病的临床研究和新药临床试验。2016年,北京协和医院牵头建立了中国第一个国家级罕见病注册登记系统(National Rare Diseases Registry System of China, NRDRS),经过五年多的建设与发展,NRDRS已覆盖29个省、自治区和直辖市,纳入101家协作单位,涉及171种/类罕见病,建立188个队列,注册罕见病患者68 137例。目前,NRDRS已初步完成资源的积累,如何基于NRDRS开展罕见病相关临床研究和临床试验是平台下一阶段发展的重点方向。本文将介绍NRDRS的建设过程,对开展罕见病相关临床研究和临床试验的潜在支持,以及可能遇到的挑战。

     

    Abstract: Rare diseases have been a major challenge for clinical medicine and public health challenge in China. One of the effective measures is to conduct proactive research on rare diseases to deal with the disease burden of the diseases. However, low prevalence, disperse distribution of patients, lack of knowledge about the disease course, and phenotype heterogeneity hamper the development of research for rare diseases. Recently, it has been found that patients registry is effective in understanding the course of the disease and accu- mulating the cases and data of clinical research or clinical trial design. At present, most of developed countries or regions in the world have promoted clinical research and clinical trials of new medications on rare diseases by using the registration of rare disease. In 2016, Peking Union Medical College Hospital established China's first registry system at the national level-National Rare Disease Registry System of China(NRDRS). NRDRS has accumulated 68 137 cases data registered by the researchers from China's 101 collaborating hospitals in 29 provinces/municipalities/autonomous regions, covering 171 different, and forming 188 cohorts. To date, NRDRS complete the initial stage of resources buildup.Nex stage will be focused on clinical research and clinical trials related to rare diseases based on NRDRS. This article is on the process of building NRDRS, the potential support for conducting clinical research and clinical trials related to rare diseases, and the challenges will be faced.

     

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