OBJECTIVE: To probe into the current status and characteristics of clinical trials of rare diseases

so as to provide references and suggestions for promoting the management of clinical trials of rare diseases in China.METHODS: Based on clinical trials.gov

clinical trials of rare diseases were retrieved comprehensively. The status and characteristics of clinical trials of rare diseases were analyzed from the perspectives of the number of registrations

geographical distribution

research types and progress

design characteristics

subjects

research objectives and fields.RESULTS: There were 481 registered clinical trials of rare disease in clinical trails.gov

most of which were hold by developed countries and regions

mainly for interventional research. The main stages were trials without phases

phase Ⅱ and phase Ⅲ. Most of enrollment were under 500 cases. The objective of the research was treatment-oriented

including 523 kinds of rare diseases

mainly for metabolic diseases and neurological diseases. CONCLUSIONS:According to the characteristics of clinical trials of rare diseases

more suitable new methods and ideas for clinical research should be explored. At this stage

it is necessary to strengthen the research on the natural history of rare diseases; in the future

it is necessary to strengthen the clinical research on rare diseases in China from the aspects of perfecting the system

strengthening the training of talents

improving the innovation ability and enthusiasm.