By summarizing the policies and regulations of foreign countries on rare disease research and drug research and development, referring to the relevant policy support of treatment guarantee system in the development of rare diseases abroad, and combining with China’s national conditions, this paper analyzed the feasible points that China can learn from, and then put forward some suggestions on the ethical problems existing in the current rare disease research, so as to provide reference suggestions for the relevant policy formulation of rare disease treatment guarantee in China: adjusting regional differences based on the principle of fairness, and establishing a national rare disease information collection center; improving the ethical quality of scientific research in pharmaceutical companies, and strengthening ethical supervision; and the government and society fulfill their obligations to protect the rights and interests of patients with rare diseases.

There are a large number of patients with rare diseases in China, and most of them are faced with problems such as no medicine to cure, and have drugs outside of China but not inside. This paper combed the incentive policies of orphan drugs in the United States and the European Union, including orphan drugs legislation and setting up special management institutions, orphan drugs qualification certification, government funding, tax reduction and agreement assistance in the research and development process, providing accelerated listing channels in the examination and approval process, giving market monopoly period in the circulation stage, and giving priority to review. On this basis, it also explored the incentive measures of non-profit organizations in the research and development of orphan drugs, including providing financial support, clinical research and so on. From the perspective of guaranteeing the right to life and health of patients with rare diseases, the fairness and accessibility of medication, and the subjects’ right to know and privacy in clinical trials, this paper provides reference for perfecting the incentive mechanism of orphan drugs research and development in China.