China has mentioned rare disease drug registration, clinical trials and approval management in some relevant regulations since 1999, but there are no specific operational details. In addition, there is no comprehensive law for rare diseases in terms of patient medication and treatment and social security.

Since 2006, when National People’s Congress representative Sun Zhaoqi submitted a proposal related to rare diseases for the first time at the National People’s Congress meeting, every year, institutions and individuals including China Doll Rare Disease Care Center (mainly NPC members with medical backgrounds) Representatives or members of the Chinese People's Political Consultative Conference) have launched policy advocacy to government departments, calling on China to introduce rare disease laws as soon as possible.

It is gratifying that some provinces and cities in China have taken the first step in rare disease policies. In 2011, Shanghai provided annual assistance of no more than 100,000 yuan to children with four rare diseases including Gaucher disease, Fabry disease, Pompe disease, and mucopolysaccharidosis in the Shanghai Children's Hospital Mutual Aid Fund (the amount was increased in 2012 to RMB 200,000 per year). In 2011, the Rare Disease Specialty Branch of the Shanghai Medical Association was established.

The Shandong Provincial Academy of Medical Sciences has established a key laboratory for rare diseases to carry out rare disease research. The latest news is that Shandong Province is about to set up a provincial-level rare disease relief fund to provide social assistance to patients with rare diseases. In October 2011, Tongling City, Anhui Province introduced new medical insurance measures for rare diseases, providing special care to patients with rare diseases in terms of outpatient services, drugs, and hospital transfers.

In July 2012, Qingdao City, Shandong Province promulgated and implemented the "Opinions on Establishing a Medical Assistance System for Urban Serious Illnesses (Trial)" to actively explore social security policies for special medication for major diseases and rare diseases.

In China, looking at single diseases, hemophilia is currently the disease with the most medical insurance policies among the many rare diseases. Hemophilia treatment has been carried out in most provinces in eastern and central China. With different levels of medical security, provincial hemophilia diagnosis, treatment and registration centers have been established in each province. Recently, the Ministry of Health has just begun to implement a wider range of medical security policy pilots for several major diseases such as hemophilia.

Of course, the formulation of a rare disease law requires the coordination of at least four major departments: the Ministry of Health, the Ministry of Social Security, the Ministry of Finance, and the Ministry of Civil Affairs. The implementation of another rare disease law is necessary, which is very important for the current situation in China. There are sufficient medical pathology research and statistics on some rare disease groups and their incidence rates. Rare disease diagnosis, treatment and scientific research centers must be established, there must be necessary doctors and sufficient drugs, and there must be financial payment capabilities and central financial settlement methods.