Construction and Application of National Rare Diseases Registry System of China

Jian GUO; Peng LIU; Zhicheng JING; Jianmin LIU; Jingqiu CHENG; Jie DING; Weihong GU; Limeng CHEN; Yicheng ZHU; Shuyang ZHANG

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Construction and Application of National Rare Diseases Registry System of China

VernacularTitle:中国国家罕见病注册系统建设及应用
Author: Jian GUO ¹ ; Peng LIU ² ; Zhicheng JING ³ ; Jianmin LIU ⁴ ; Jingqiu CHENG ⁵ ; Jie DING ⁶ ; Weihong GU ⁷ ; Limeng CHEN ⁸ ; Yicheng ZHU ⁹ ; Shuyang ZHANG ¹⁰
Author Information

1. The administrative group of National Rare Diseases Registry System of China, Beijing 100730, China.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.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.
2. The administrative group of National Rare Diseases Registry System of China, Beijing 100730, China.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.
3. 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.
4. Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai 200025, China.
5. West China Hospital, Sichuan University, Sichuan 610044, China.
6. Peking University First Hospital, Beijing 100034, China.
7. The administrative group of National Rare Diseases Registry System of China, Beijing 100730, China.
8. The administrative group of National Rare Diseases Registry System of China, Beijing 100730, China.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.
9. The administrative group of National Rare Diseases Registry System of China, Beijing 100730, China.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.
10. The administrative group of National Rare Diseases Registry System of China, Beijing 100730, China.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.
Publication Type:Journal Article
Keywords: rare diseases; registry; clinical trial
From: JOURNAL OF RARE DISEASES 2022;1(1):7-12
CountryChina
Language:Chinese
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.