China News Service, June 19 (Reporter Chen Jing) The reporter learned on the 19th that so far, based on the "First List of Rare Diseases", China has listed more than 70 rare disease-related drugs, involving more than 60 rare diseases. .

Patients with these rare diseases have achieved "medicine to cure".

At the same time, high-value drugs for rare diseases ("orphan drugs") have also entered the fast lane to market.

　　A multidisciplinary expert seminar on the prevention and control of urea cycle disorders, co-sponsored by the National Association of Rare Diseases Academic Association Chairmen Meeting, Shanghai Rare Disease Prevention Foundation and Shanghai Medical Association Rare Disease Specialist Branch, was held here on the 19th.

The heads of rare disease academic organizations across China, experts in related fields such as clinical medicine, pharmacy, law, policy research, and health economics, and business professionals have jointly faced the opportunities and challenges of the rare disease drug protection mechanism and provided suggestions.

　　It is reported that about 7,000 rare diseases have been discovered in the world, 80% of which are genetic diseases. About half of rare diseases are children. Among the deaths of infants under 1 year old, about 35% are caused by rare diseases.

Experts answered questions from reporters.

Chen Jing

　　It is understood that in recent years, China has issued a series of policies to promote the development of rare disease prevention and protection.

At the same time, with the reform and development of the national medical and health system, the drug review and approval process continues to be optimized. In 2019 and 2020, a variety of high-value drugs were approved in China, giving rare disease patients and their families hope.

　　In recent years, the introduction of rare disease drugs into China and their inclusion in the national medical insurance catalogue have been increasing year by year.

During the interview, the reporter learned that with the approval of related treatment drugs in China, long-term treatment of patients with urea cycle disorders and the improvement of their quality of life have new guarantees.

It is reported that urea cycle disorder (UCD) is an autosomal recessive inherited disease.

Early onset of neonates has a high mortality rate; late-onset diseases can lead to mental retardation and death.

　　At the seminar, the reporter learned that Shanghai, Qingdao, Zhejiang, Foshan and other places have explored mechanisms for guaranteeing drugs for rare diseases.

Localities have brought the gospel to patients by including rare diseases in the medical insurance for major diseases, establishing a special fund system, implementing government-type commercial insurance, encouraging participation in medical assistance, advocating charitable assistance, corporate donations, and a certain proportion of individual self-payment.

　　During the interview, the reporter learned that there are still many limitations in the exploration of various regions, such as: the personal pay ratio is very different in different places; the number of rare disease patients is small, and the room for drug price negotiation is limited; the product design of policy-based commercial insurance is not mature enough in the rapid development. It is difficult to form a long-term mechanism and so on.

Li Dingguo, chairman of the Shanghai Rare Disease Prevention and Control Foundation, told reporters that rare diseases are not only medical issues but also social issues.

Rare diseases have been neglected due to their low incidence, limited treatment methods, and low social awareness of rare diseases.

Difficulty in discovery, treatment, inability to use drugs, and inability to use drugs have always been one of the important reasons that plague patients with rare diseases and their families.

He believes that promoting the prevention and treatment of rare diseases is a symbol of the progress of social civilization.

　　Professor Yang Yanling, a professor of pediatrics at Peking University First Hospital, said that for rare diseases and genetic diseases, we should be able to prevent and cure all diseases.

The expert said frankly that 80% of rare diseases are inherited metabolic diseases, and most inherited diseases are recessive inheritance. From the perspective of prevention and control, it is very difficult, so it must be cured.

　　Huang Guoying, the dean of the Children's Hospital of Fudan University, said frankly that exploring the drug security mechanism for rare diseases is a gradual process, and it is also a process of continuous enrichment and improvement with the country's economic and social development.

He hopes that industry-university-research-medicine will be combined, and enterprises will actively cooperate with medical institutions to jointly develop drugs and equipment for the diagnosis and treatment of rare diseases.

　　Wang Lin, secretary-general of the Joint Conference of Chairpersons of National Rare Disease Academic Societies, told reporters that the prevention and treatment of rare diseases is consistent with eugenics and education, and the improvement of the overall quality of the Chinese nation.

Wang Lin believes that rare disease drugs should be included in the medical insurance list as much as possible to share the financial pressure for families with rare diseases. This is a problem worthy of discussion.

She believes that the establishment of a government-led multi-party co-payment mechanism for rare disease drugs is particularly urgent. It is necessary to solve the problem of rare disease legislation and establish a rare disease database in China.

　　It is understood that in recent years, the development of China's rare disease cause has brought opportunities and challenges for pharmaceutical companies.

The optimization and reform of the drug review and approval process has greatly shortened the window period for rare disease drugs to be marketed.

The efforts of enterprises have improved the medication protection for patients with rare diseases.

　　During the interview, many experts said that in the process of seeking development, enterprises must adhere to both economic and social benefits.

It is reported that most high-value drugs for rare diseases rely on imports and are expensive.

Companies must reasonably reduce the cost of medication for patients in order to improve the availability of drugs among patients with rare diseases and increase independent research and development of drugs for rare diseases.

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