The first batch of national catalogue of rare diseases will be published: including hundreds of diseases, with priority given to treatable diseases

Source: surging news 2017-09-19 "at present, there are more than 7000 kinds of rare diseases known in the world, with more than 300 million people affected The diagnosis and treatment technology of rare diseases is far behind that of common diseases, only 5% of patients have medicine to treat, but most of them are extremely expensive and most of them are difficult to bear " Recently, at the 12th International Congress on rare diseases and orphan drugs and the 6th China rare diseases Summit Forum held in Beijing, Zhang Shuyang, vice president of Peking Union Medical College Hospital, disclosed the above data Zhang Jie, senior reviewer of the first Department of chemical medicine of the drug evaluation center of the State Food and drug administration, further added, "there are only 400-500 kinds of drugs with specific therapeutic effects in more than 7000 rare diseases However, less than 20% of them are listed in China, most of them are imported drugs Fortunately, China's import approval of drugs for rare diseases is speeding up, and relevant supporting policies have been issued in succession According to Zhang Jie, more than 130 drugs for rare diseases have been approved in China According to Zhang's introduction, the first officially defined list of rare diseases is also under discussion, including more than 100 diseases At that time, drug import approval and medical insurance payment for rare diseases will benefit More than 7000 kinds of rare diseases can be treated in the catalogue, which will be included in the official catalogue, which standards will be followed, and why not list all the incomes in one time? Zhang said that the first batch of catalogues contained about 100 kinds of rare diseases There are at least some ways to solve the problem (patients' burden is too large) linked to future health insurance policies "Otherwise, it's meaningless to leave the sky, the ground and the land Zhang Jie also emphasized that the review of rare drugs needs to take into account the incidence rate, severity, drug accessibility, the basis of foreign listing and China's medical practice At present, the national health and Family Planning Commission is responsible for the development of the catalogue So far, there is no official definition of rare diseases and relevant laws and regulations in China Gao Chenyan, director of the clinical department of biological products of the drug evaluation center of the State Food and drug administration, also expressed confusion: how to make the catalogue of rare diseases? Are drugs for rare diseases the same as drugs for orphans? What is the scope of equivalence? "We hope that the health management department will issue a catalogue of rare diseases and tell us the clinical needs Among all kinds of policies, the term "orphan drug" is not mentioned All policies use drugs for rare diseases But what are the rare diseases? " Gao Chenyan proposed at the meeting However, in practice, as some of the above guidelines have not been refined, and the official definition of "orphan drug" has not yet been formulated, the premise of "which drug is orphan drug" is still a problem, and how to give priority to the evaluation of "priority" is even more elusive "Three no status, no official definition of rare diseases, no national policy of any support, almost no medical insurance reimbursement." Zheng Weiyi, an expert in the national "thousand talents plan" and chairman of Nanjing yingnuo Pharmaceutical Technology Co., Ltd., once described the current situation of "orphan drugs" in China in an interview with surging news (www.thepaper CN) In view of this, the development of the official catalogue of rare diseases will give priority to the collection of rare diseases that have already been treated The payment of orphan drug insurance still needs to break through "The R & D cost of rare disease drugs is 25 times that of common drugs, which makes many drugs hope to go ahead." Cong fan, general manager of pharmaceutical company shire China, said "Social and economic conditions, market access and payment policies are the core factors that determine whether patients can get treatment drugs or not." Huang rufang, director of the center for the development of rare diseases, said Some patients give up medicine because of the heavy financial burden For pharmaceutical companies, if orphan drugs are not included in the medical insurance, it means that the market is becoming narrower and narrower, and the huge research and development costs invested in the early stage are hard to recover, and unprofitable Liu junshuai, vice president and Secretary General of Qingdao Social Insurance Research Association, pointed out that at present, China's rare disease security is a point-shaped breakthrough, which has not yet formed a comprehensive in-depth breakthrough, and has not achieved a breakthrough in such basic parts as the concept, definition, catalogue, legal and epidemiological data of rare diseases Secondly, the whole security system, including medical insurance, relief and charity, has not yet formed a stable structure There are only partial breakthroughs in some areas, only partial breakthroughs in some diseases, only partial breakthroughs in some patient organizations According to Liu junshuai's suggestion, the priority should be given to the construction of national diagnosis and treatment center, focusing on disease diagnosis, starting from the accessibility of medical services; the treatment of treatable rare diseases, focusing on drug security, starting from the payment of orphan drugs; the welfare of refractory rare diseases, focusing on comprehensive security, starting from the whole life cycle protection The research of clinical epidemiology focuses on the basic data and the basic factors of easy operation In the process of practice, the catalogue of rare diseases is incubated slowly Previously, relevant departments had issued documents on the issue of "orphan drugs" for many times Gao Chenyan said that from 2015 to 2017, the state issued a series of policy drafts (Announcement No 52-55) to encourage the innovation of pharmaceutical and medical devices, hoping to promote the research and development of rare disease drugs For example, according to Announcement No 55, when an applicant submits an application for drug listing, he / she can apply for protection of experimental data at the same time Data protection period of 10 years shall be given to the innovative drugs, rare disease drugs and special drugs for children, and 3 years shall be given to the rare disease drugs and special drugs for children belonging to the improved new drugs Health care payments are still a problem Ding Jie, a member of the national health and Family Planning Commission's Committee of experts on diagnosis, treatment and protection of rare diseases, previously told the surging news that in view of the current medical insurance measures and the pressure of medical insurance funds, it is difficult to solve the medical insurance problem of rare diseases in one step In the future, it is likely to take practices similar to those in Zhejiang, Shanghai and other places as samples, and explore by local governments first The meeting also revealed another good news, the world's first drug for the treatment of rare C-type Niemann peak disease (NPC), megestat capsule zevik, will be listed in China at the lowest price in the world The "lowest price" is about 300000 yuan a year, but at least the dilemma of "no medicine available" is about to be solved.