Due to the small number of patients with rare diseases, low market demand, and high research and development costs, few pharmaceutical companies pay attention to the research and development of their therapeutic drugs. Therefore, these drugs used for prevention, treatment, and diagnosis of rare diseases are vividly referred to as "orphan drugs". At present, the research and development of "orphan drugs" in China is still in a blank, and the treatment drugs for rare disease patients mainly rely on foreign imports, resulting in many rare disease patients having to choose expensive imported drugs or no drugs available.

1. Current situation

Among the five to six thousand rare diseases currently confirmed, the vast majority are incurable, with only a few available. However, these "orphan drugs" are very expensive, making it difficult for the average family to withstand enormous economic pressure. For example, the cost of treating "Gaucher's disease" with drugs is about 200000 US dollars per year, and the expensive treatment costs make many patients have to give up treatment. At present, 134 patients with "Gaucher's disease" in China have received free medication through the charity drug donation program of the Rare Disease Relief Program.

At present, there is no official authoritative definition for rare diseases in China, and there are no exact reports on the types of diseases and the population affected. According to the definition of the World Health Organization, the incidence rate of rare diseases is 0.65% to 1%. Currently, there are over ten million rare disease patients in China. However, progress in the prevention and treatment of rare diseases in China has been slow, and there is a lack of policy support for the research and development, introduction, production, and sales of rare disease drugs, resulting in a gap in the domestic rare disease drug development industry.

Due to low profits, low market demand, and high research and development costs, "orphan drugs" are unprofitable and not produced by domestic pharmaceutical companies. As a result, many rare disease patients can only choose expensive imported drugs or have no drugs available.

2. Development status

According to staff from the Rare Disease Relief Office of the China Charity Federation, it was not until recent years that a few rare disease treatment drugs were developed with the development of biotechnology and the protection of relevant laws on "orphan drugs" in countries such as the United States and the European Union.

Based on the high-risk situation of the research and development of "orphan medicine", many countries have provided policy support for it. For example, Japan officially implemented the "Rare Disease Medication Management System" in 1993, and the entire research process can enjoy fund support, tax reduction, priority approval, extended drug re examination time, and preferential payments from national health insurance. The US Food and Drug Administration (FDA) also provides a fast track program for the registration of "orphan drugs", which also enjoy tax reductions and a 7-year market monopoly.

The laws and regulations on rare disease drugs in various countries around the world have inspired biopharmaceutical companies to research and develop rare disease drugs, and have greatly accelerated the launch of rare disease drugs. Before the implementation of the Rare Disease Drugs Act in 1983, the United States had less than 10 rare disease drugs on the market. By December 2008, 1951 rare disease drugs had been registered with the FDA and 325 rare disease products had been approved for marketing. Before the implementation of the rare disease drug regulation in 1999, only 8 orphan drugs were approved by the European Union. As of February 2009, 619 rare disease products had been recognized and 47 "orphan drugs" had been approved.