Objective The treatment and management of rare diseases is a global public health challenge. This paper fully summarizes the treatment and management pattern of rare disease in China, covering prevention, diagnosis, medication and medical security, evaluate the performance of each measure and discuss its international significance.

Methods A thorough analysis on China’s policies, regulations about rate disease, and their implementation in recent years was conducted, focusing on disease definition, diagnosis and treatment, medical security, medicines, and prevention of rare disease.

Results : China has made a series of solution for the challenge caused by rare disease in the practice of treatment and management of such disease. To address the problem of rare disease definition due to limited epidemiological data, a rare disease list was made out for the first time in China, covering 207 conditions. To address the challenges of vast territory of China and uneven distribution of medical resources in China, a nationwide collaborative medical service network was established to improve the disease diagnosis. To address the problem of high cost of medicines, a multi-tiered medical security system was established by integrating both social and commercial resources. To balance the supply and demand of medicines, an equal strategy for medicine development and importation was used. Based on the three-level prevention and control system, early intervention was conducted.

Conclusion China’s "full-chain, multi-level" pattern of rare disease treatment and management has great significance for developing countries and the innovations of establishing rare disease list, collaboration network and multivariant medical security system have provided “China solution” for the treatment and management of rare disease in other countries based on their conditions.