Analysis of the Clinical Research Status of 121 Rare Diseases in China
Authors: Yuan Ziyan , Qin Yi , Yin Huan , Li Ling , Yang Yuan , Gao Dongping , Liu Hui 
Published: December 2022

Background: The use of the term “rare disease” in China dated back to the 1960s, while clinical research on this disease category began in late 80s. In recent times, continuous release of policies and investment of funding were made on perspective of rare disease treatments and healthcare coverage, which positively encouraged the social understanding of this disease topic. Despite of the attention, it is limited to see studies describing the status of rare disease clinical research in Chinese population, not to say those originally organized and conducted by Chinese investigators. A clear understanding of the status and trend of clinical research in the field of rare disease gives supportive evidence for future political assessment and project management in a practical manner.
Objective: The object of this study is to clarify the clinical research status and trend of rare diseases categorized in the “1st Catalogue of Rare Diseases (2018)” (“Catalogue” for short) in China. Based on analysis of the contents, we address the weaknesses presented in recent studies and explore the way for improvements.
Methods: Entities of 121 rare diseases listed in the “Catalogue” were extracted from cross-references of paper manuals and network resources, and contextual association and mapping of the entities were made to constructed the terminology system of rare diseases. Registrations from ClinicalTrials.gov were retrieved based on both the diseases entities and the terminology system to ensure the formation of the original datasets was fairly accurate. Recorded programs were then organized in line with the list order of the “Catalogue”. Studies initiated by investigators outside of the People’s Republic of China were filter out and the cleaned dataset was used for analysis of research status and trends.
Results: From January 1st 2001 to December 31st 2021, 848 rare disease clinical researches that categorized in the list of 121 rare diseases were found, and 43.63% of the total registrations were initiated and conducted by Chinese investigators. 47.93% of the disease types listed in the “Catalogue” were covered, making Hemophilia, Amyotrophic Latera Sclerosis, and Idiopathic Pulmonary Arterial Hypertension the frequently researched diseases. Interventional, single-centered and single-disease are predominant types of studies, and the spatial distributions were unevenly accumulated in 5 areas, including Beijing, Tianjin, Shanghai, Guangdong and Taiwan. 24.05% of records completed patients recruitment without delays and the result post rate was only 4.29% . Continuous rise in the number of rare disease clinical studies was seen, but more types of rare diseases, quality control of the registrations and innovative research strategies still needs to be promoted.
Conclusion: This study describes the status and trends of rare disease clinical researches initiated in China and presents the characteristics of Chinese population in perspective of the “Catalogue”. The results can serve to support the adjustment of healthcare policy focus, rearrangement of medical resources, improvements of registered quality control, and development of innovative strategies for recruitment in the context of China.