中国国家罕见病注册系统建设及应用

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

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

doi: 10.12376/j.issn.2097-0501.2022.01.002

郭健^{1, 2, 3},
刘鹏^{1, 3},
荆志成²,
刘建民⁶,
程惊秋⁷,
丁洁⁸,
顾卫红¹,
陈丽萌^{1, 4},
朱以诚^{1, 5},
张抒扬^{1, 2, ,}

1.
中国国家罕见病注册系统(NRDRS)平台管理组，北京 100730
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国家重点实验室医学科学研究中心，北京 100730
4.
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肾内科，北京 100730
5.
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神经科，北京 100730
6.
上海交通大学医学院附属瑞金医院，上海 200025
7.
四川大学华西医院，四川 610044
8.
北京大学第一医院，北京 100034

基金项目:

中国医学科学院医学与健康科技创新工程项目 2021-I2M-1-003

国家重点研发计划 2016YFC0901500

详细信息

通信作者:
张抒扬，E-mail: shuyangzhang103@163.com

中图分类号: R188.2; R19
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出版历程
- 收稿日期: 2021-12-20
- 修回日期: 2022-01-23

Construction and Application of National Rare Diseases Registry System of China

GUO Jian^{1, 2, 3},
LIU Peng^{1, 3},
JING Zhicheng²,
LIU Jianmin⁶,
CHENG Jingqiu⁷,
DING Jie⁸,
GU Weihong¹,
CHEN Limeng^{1, 4},
ZHU Yicheng^{1, 5},
ZHANG Shuyang^{1, 2
, ,}

1.
The administrative group of National Rare Diseases Registry System of China, Beijing 100730, China
2.
Department of Cardiology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
3.
Medical Research Center, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
4.
Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
5.
Department of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
6.
Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai 200025, China
7.
West China Hospital, Sichuan University, Sichuan 610044, China
8.
Peking University First Hospital, Beijing 100034, China

Funding:

CAMS Innovation Fund for Medical Sciences 2021-I2M-1-003

National Key Research and Development Program of China 2016YFC0901500

More Information

Corresponding author: ZHANG Shuyang, E-mail: shuyangzhang103@163.com

摘要

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。
- 罕见病 /
- 注册登记 /
- 临床试验
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.
- rare diseases /
- registry /
- clinical trial
注释:

作者贡献：郭健负责撰写初稿、修订论文；刘鹏负责检索相关文献、修订论文；荆志成、刘建民、程惊秋、丁洁、陈丽萌、朱以诚对文章进行审阅并提出修改意见；张抒扬、顾卫红提出选题思路、指导论文撰写并终审校对。

利益冲突：所有作者均声明不存在利益冲突

HTML全文

图 1 NRDRS各协作单位的地区分布

注：协作单位数量相同的各省级行政区之间的排名不分先后

下载: 全尺寸图片幻灯片

表 1 “罕见病临床队列研究”项目内容和参与机构

项目内容	参与机构
国家罕见病注册系统平台建设	1.中国医学科学院北京协和医院
心、肺、肾罕见病	1.中国医学科学院阜外医院^*
	2.上海长征医院
	3.中国人民解放军总医院
	4.广州医科大学附属第一医院
内分泌代谢与血液系统罕见病	1.上海交通大学医学院附属瑞金医院^*
	2.中国医学科学院血液病医院
	3.山东省立医院
	4.山东省医学科学院
	5.浙江大学医学院附属第一医院
神经、骨骼与皮肤罕见病	1.四川大学华西医院^*
	2.中南大学湘雅医院
	3.复旦大学
	4.中国医科大学附属第一医院
	5.温州医科大学
儿童罕见病	1.北京大学第一医院^*
	2.上海交通大学医学院附属新华医院
	3.首都儿科研究所
	4.首都医科大学附属北京儿童医院
	5.中日友好医院
^*各子项目的负责单位

下载: 导出CSV

参考文献(15)

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中国国家罕见病注册系统建设及应用

doi: 10.12376/j.issn.2097-0501.2022.01.002

通信作者: 张抒扬，E-mail: shuyangzhang103@163.com

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Construction and Application of National Rare Diseases Registry System of China

Corresponding author: ZHANG Shuyang, E-mail: shuyangzhang103@163.com

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通信作者:
张抒扬，E-mail: shuyangzhang103@163.com