"Sky high price" life-saving medicine into medical insurance, how far is it from solving the difficulty of rare disease treatment
2022-03-01
On the eve of 2022, Li Jiashu, a 4-year-old child with spinal muscular atrophy (SMA) in Zaozhuang, Shandong Province, received a hard won "New Year gift" - smooth injection of the targeted therapeutic drug nosinasheng sodium, becoming the first person to inject the drug in China after it was included in the medical insurance. After the injection, Li Jiashu's mother, Li Xiuhua, wept with joy. Spinal muscular atrophy is only one of the more than 7000 rare diseases confirmed at present. According to the definition of the World Health Organization, rare diseases refer to diseases that account for 0.65 ‰ - 1 ‰ of the total population. According to the data of China rare diseases alliance, the number of patients with rare diseases in China has reached more than 20 million, with more than 200000 new patients every year. Due to the lack of clinical cases and experience, it leads to high misdiagnosis, high missed diagnosis and difficult medication. Rare diseases are often called "medical orphans". No specific drugs, high drug prices, low drug coverage, limited diagnosis and treatment level in some areas, lack of rare disease professionals and other reasons have become mountains across the treatment of rare diseases. How to make this group have medical treatment, medicine and drug protection, and turn more "sky high price drugs" into affordable life-saving drugs for patients, the rare disease security system still needs to be continuously improved. "Sky high price" life-saving drugs were included in medical insurance, and the patients' family happiness increased significantly Spinal muscular atrophy is characterized by degeneration and loss of motor neurons in the spinal cord and lower brainstem. It is a rare disease of hereditary neuromuscular diseases. In China, the incidence rate of spinal muscular atrophy is about 1/6000 to 1/10000 in neonates. At present, there are more than 30 thousand patients with spinal muscular atrophy. Nosinasheng sodium injection is the first imported drug approved for the treatment of spinal muscular atrophy in China. Patients need to be injected 6 times in the first year and 1 injection every 4 months from the second year. Children's exercise ability will recover to a certain extent after injection. Li Xiuhua said that there are hundreds of patients in her group, almost all of whom are parents of children. Over the years, everyone has been discussing their children's rehabilitation treatment in the group every day. What parents expect most is that life-saving drugs can be introduced into China as soon as possible. "In 2019, when nosinoxazole sodium injection was approved to enter the Chinese market, the group of patients was boiling. Everyone discussed it enthusiastically. At that time, we felt that our child was finally saved." Li Xiuhua told reporters that what impressed her was that when she learned that the price of each needle was 700000 yuan, the lively wechat group suddenly became silent. For a long time, no one in the group spoke. On December 3 last year, after eight rounds of negotiations, the drug entered the new medical insurance catalogue at the "floor price" of 33000 yuan per needle. Also since that day, many patients with spinal muscular atrophy have become active again. At present, Li Jiashu has completed four injections and his condition has gradually improved. Li Xiuhua, who accompanies her child for rehabilitation treatment every day, also began to have a smile on her face. Without help, Li Jiashu can keep his back straight for a period of time. Lu Yuan, a technician in charge of Zaozhuang maternal and child health hospital, told reporters that every time he comes to the hospital for rehabilitation treatment, the doctor will evaluate Li Jiashu's physical condition. From various indicators, after using targeted treatment drugs, the quality of children's completing various actions has been significantly improved. Li Xiuhua said that after the sodium nosinogenase injection was included in the medical insurance, the price was greatly reduced, so that more families can treat their children. After a period of recovery, children of the same age as Li Jiashu have the possibility of going to school, which greatly improves the happiness of the family. There are family joys and family worries, and there are still many expectations for rare disease groups The reporter learned that since its establishment in 2018, the national medical security administration has dynamically adjusted the list of Medicare drugs once a year, and drugs for rare diseases are also transferred. At the same time, through the negotiation and access of drugs for rare diseases, the price of drugs for rare diseases has been greatly reduced. Among the 74 new drugs listed in the medical insurance catalogue this year, in addition to the widely concerned sodium nosinogenase injection, the drug agatase used to treat the rare disease "Fabry's disease" α The concentrated solution for injection is also included in the medical insurance. The incidence of "Fabry's disease" is only 1 / 47600 to 1 / 117000. There are about hundreds of patients diagnosed in China, and the annual cost of using the drug before was more than one million yuan. However, spinal muscular atrophy and Fabry's disease are only two of more than 7000 rare diseases. At present, the number of patients with all rare diseases in China has reached more than 20 million, with more than 200000 new patients every year. A large number of drugs for rare diseases have not yet entered the Chinese market, or have not been included in medical insurance after entering China. Many patients are in the dilemma of no drugs available or facing high medical burden. For example, raviti phenylbutyric acid glyceride, a drug used to treat rare diseases with urea cycle disorders, sells for $5273 in the U.S. market, and the annual use fee is as high as $695900. Even if it enters the domestic market, it is difficult for patients to bear. In addition, even for spinal muscular atrophy, which has been included in medical insurance drugs, patients have expectations. The reporter learned that the gene therapy drug zolgensma developed by Novartis for the treatment of spinal muscular atrophy can achieve long-term remission or even cure by only one intravenous injection. Because it is a one shot cure, the price of sovarevir is much higher than that of nosinasheng sodium injection. At present, the price in the United States is US $2.125 million (about 13.5 million yuan), which is known as the most expensive drug in pharmaceutical history. At present, the drug has been approved for marketing in nearly 40 countries and regions around the world. This year, the publicity of the drug evaluation center of the State Food and Drug Administration of China showed that the drug clinical trial application submitted by zolgensma in China has obtained the implied permission of clinical trial. Compared with the practical difficulties of having drugs but not being able to afford them, what most patients with rare diseases expect is to alleviate the current "despair" without drugs. The reporter learned that among many rare diseases, less than 10% of the diseases have therapeutic drugs, and most rare diseases are still in a state without drugs. Experts believe that from the perspective of drug research and development, the number of patients with rare diseases is small, and the return on R & D investment is very low, which leads to the lack of motivation of pharmaceutical enterprises in drug research and development of rare diseases. There are still many problems to be solved to overcome the difficulties in the treatment of rare diseases Difficult and expensive drugs are only the most obvious difficulties in the treatment of rare diseases. However, behind this is a series of deep-seated problems such as difficult diagnosis of diseases, insufficient drug supply, lack of professionals and so on. First, it is difficult to diagnose rare diseases. A wide variety and complex clinical manifestations make it difficult to diagnose, which is the primary problem in the diagnosis and treatment of rare diseases. Even some patients with rare diseases took 20 or 30 years to diagnose. Ding Jie, Professor of the first hospital of Peking University and chairman of the rare diseases branch of Beijing Medical Association, said that taking mucopolysaccharide storage disease type II (mpsii) as an example, patients are generally faced with many twists and turns, some even more than 50 times. It takes almost five or six years from the beginning of treatment to diagnosis. The organ system damage caused by mpsii is almost irreversible. If we can diagnose the disease early and give timely treatment, we can prevent and delay the disease process and avoid serious complications. Secondly, the uneven distribution of medical resources and the lack of professionals further restrict the treatment of rare diseases. Many experts interviewed pointed out that rare diseases involve many disciplines such as blood, orthopedics, nerves, kidneys, respiration, skin and severe diseases. Due to the uneven distribution of medical resources, in addition to the eastern developed provinces, clinicians in many regional hospitals generally lack professional knowledge of rare diseases, and the multidisciplinary consultation mechanism needs to be improved, resulting in the inability to treat patients with rare diseases in time at the first time. Zhao Yuying, professional director of genetic metabolic diseases and rare diseases in the Department of Neurology of Qilu Hospital of Shandong University, told reporters that the diagnosis and treatment of rare diseases not only involves clinicians of various disciplines, but also requires the cooperation of multiple departments such as nursing, rehabilitation, nutrition, genetics, assisted reproduction, testing and pharmacy. Even if there are no particularly effective drugs for related diseases, they can be diagnosed as soon as possible after consultation with experts in many fields, and certain rehabilitation measures can be taken. Patients and their families don't need to spend money, effort and seek medical treatment blindly. Third, the research and development of rare disease drugs by domestic pharmaceutical enterprises lags behind. In 2021, most of the drugs developed by foreign medical insurance companies were included in the list of rare drugs. Due to the difficulty in developing new drugs for rare diseases, the small number of patients with a single disease, the small amount of drugs and the uncertain market scale, domestic enterprises lack enthusiasm in R & D and production. A report released by the global biotechnology industry organization shows that in the 9704 drug clinical development projects carried out worldwide from 2011 to 2020, the average time from phase I clinical to FDA approval for listing is 10.5 years, while the process of rare disease drugs is 4 years longer than that of other drugs. At the same time, the clinical trials of rare disease drugs also have the characteristics of small sample size, large heterogeneity and difficult recruitment, which makes the failure rate of screening and random enrollment significantly higher at any stage of the clinical trial. Several heads of pharmaceutical enterprises told reporters that there is little difference in R & D time and cost between rare disease drugs and tumor drugs, but the market faced by rare disease drugs is small, and the R & D willingness of domestic pharmaceutical enterprises is relatively low. Coupled with the current lack of policy support for rare disease drugs in China, and the lack of compensation and incentive mechanism in production and R & D, the number of rare disease drugs entering the clinical stage is very few. Take multiple measures to form a joint force of policies and "reveal the bottom" for more patients with rare diseases In recent years, China is actively promoting medical security for rare disease groups. In 2018, the National Health Commission, the Ministry of science and technology and other five ministries and commissions jointly issued the first batch of rare diseases list, involving 121 kinds of rare diseases, providing reference and basis for Chinese medical institutions to carry out rare disease prevention, screening, diagnosis, treatment and rehabilitation, as well as relevant scientific and technological research and development, social security and charitable rescue policies. In addition, relevant departments give priority to the review and approval of drugs for the treatment of rare diseases. In just a few years, more than 60 drugs for rare diseases have been approved for listing, and more than 40 drugs for rare diseases have been included in the national medical insurance drug catalogue, involving 25 diseases. These drugs not only fill the gap in the treatment of related rare diseases, but also quietly light up the hope of families. Many experts suggested that it is still not enough to rely on unilateral efforts to solve the medical security of rare diseases. In the future, we need to work together in multiple channels such as medical system construction, medical research and development, scientific research incentive and disease prevention and control publicity, so as to form a joint force for a series of policies, so as to "reveal the bottom" for more rare patients. First, encourage all localities to establish rare disease diagnosis and treatment centers as soon as possible and form a multidisciplinary diagnosis and treatment system. Qilu Hospital of Shandong University has set up a rare disease diagnosis and treatment center, which has treated many patients with rare diseases, especially the multi-disciplinary and multi sectoral model, which has achieved good results. The first mock exam center of Chinese Medical Association Luo Xiaoping pointed out that the diagnosis and treatment center of rare diseases established in some third grade hospitals in developed provinces of medical resources has been similar to those in Europe and America. This mode needs to be promoted in more provinces. Second, improve support measures to stimulate the enthusiasm of local pharmaceutical enterprises in the research and development of rare disease drugs. Many experts believe that more attention should be paid to the R & D and production of rare disease drugs in domestic pharmaceutical enterprises
Edit：He Chuanning Responsible editor：Su Suiyue
Source：Xinhua
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