Rare diseases and legislation in China

Abstract

++ + , Public awareness of rare diseases is increasing in China. People with rare diseases and their families, patients’ advocacy groups, health-care professionals, lawyers, and representatives of the People’s Congress are working together to establish a Rare Diseases Prevention and Treatment Law. On the basis of WHO’s defi nition of a rare disease, at least 10 million people are living with rare diseases in China. 1 This estimate seems conservative for a population of more than 1·3 billion in China. Rare diseases in China include osteogenesis imperfecta, neuromuscular diseases, Fabry’s disease, Gaucher’s disease, phenylketonurias, haemophilia A and B, lymphangioleiomyomatosis, albinism, and acromegaly. 2 Unfortunately, Chinese patients with such diseases generally do not have access to appropriate health care, especially orphan medicines. Very few agents used for rare diseases in developed countries have entered the Chinese formulary, and few such drugs are aff ordable without a supportive policy or health-care insurance. Consequently, many patients are unable to fulfi l activities of daily living, and might lose their jobs, become disabled or isolated, and even die prematurely. Ayme and co-workers 3 discussed the role of patients’