"Sky-high" life-saving drugs are included in medical insurance, how far is it to solve the difficulty of treating rare diseases

At present, the number of rare disease patients in China has reached more than 20 million, with more than 200,000 new patients every year.
"New Year's Gift"-Successfully injected targeted therapy drug Nosinagen Sodium, becoming the first injector in the country after the drug was included in the medical insurance
.
After the injection, Li Jiashu's mother, Li Xiuhua, burst into tears of joy
.
Spinal muscular atrophy is just one of more than 7,000 rare diseases identified so far
.
According to the definition of the World Health Organization, rare diseases refer to diseases with 0.
65‰-1‰ of the total population
.
According to data from the China Rare Disease Alliance, the number of rare disease patients in China has reached more than 20 million, with more than 200,000 new patients every year
.
Rare diseases are often referred to as "the orphans of medicine" due to the small number of clinical cases and little experience, leading to high misdiagnosis, high missed diagnosis, and difficulty in medication
.
The lack of specific drugs, high drug prices, low drug coverage, limited diagnosis and treatment in some areas, and lack of rare disease professionals have become huge mountains in the treatment of rare diseases
.
How to enable this group to achieve medical treatment for diseases, medicines for medicines, and insurance for medicines, so that more "high-priced medicines" can become affordable life-saving medicines for patients, and the rare disease protection system still needs to be continuously improved
.
"Sky-high" life-saving drugs are included in medical insurance, and patients' family happiness is greatly improved.
Spinal muscular atrophy is characterized by the degeneration and loss of motor neurons in the spinal cord and lower brainstem, and is a rare genetic neuromuscular disease
.
The incidence of spinal muscular atrophy in newborns in China is about 1/6000 to 1/10000, and there are currently more than 30,000 spinal muscular atrophy patients
.
Nosinagen Sodium Injection is the first imported drug approved in China for the treatment of spinal muscular atrophy
.
Patients need 6 injections of the drug in the first year and 1 injection every 4 months starting in the second year
.
After the injection of the drug, the child's exercise ability will recover to a certain extent
.
Li Xiuhua said that there are hundreds of patients in her group of patients, almost all of whom are parents of children. .
Over the years, everyone has been discussing the rehabilitation and treatment of their children in the group every day.
What parents hope most is that life-saving medicines can be introduced into China as soon as possible
.
"When Noxinagen Sodium Injection was approved to enter the Chinese market in 2019, the group of patients boiled over and the discussions were very lively.
At that time, I felt that our child was finally saved
.
" Li Xiuhua told reporters that what impressed her deeply was that when she was able to When the price of 700,000 yuan per needle was known, the lively WeChat group suddenly became silent.
For a long time, no one in the group spoke
.
On December 3 last year, after 8 rounds of negotiations, the drug entered the new version of the medical insurance catalog at a "floor price" of 33,000 yuan per injection
.
Also since that day, many SMA patient groups have become active again
.
At present, Li Jiashu has completed four injections, and his condition has gradually improved
.
Li Xiuhua, who accompanies her children in rehabilitation treatment every day, also began to smile on her face
.
Li Jiashu can keep his back straight for a period of time without anyone to help him
.
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 the perspective of various indicators, after the use of targeted therapy drugs, the child will complete various actions.
Quality has improved significantly
.
Li Xiuhua said that after being included in the medical insurance, the price of Nosinasheng Sodium Injection has been greatly reduced, so that more families have the ability to treat their children
.
After a period of recovery, children of the same age as Li Jiashu have the possibility to go to school, which greatly improves the family's happiness
.
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 medical insurance drugs once a year, and drugs for rare diseases are also included in the list
.
At the same time, through the negotiation of access to rare disease drugs, the price of rare disease drugs has been greatly reduced
.
Among the 74 new drugs entered into the medical insurance catalogue this year, in addition to the widely concerned Nosinagen Sodium Injection, the drug agalsidase α injection concentrated solution for the treatment of the rare disease "Fabry disease" is also included in the medical insurance
.
The incidence of "Fabry disease" is only 1/47,600 to 1/117,000.
There are about several hundred patients diagnosed in China, and the annual cost of using the drug for treatment before is also more than one million yuan
.
However, spinal muscular atrophy and Fabry disease are only two of the more than 7,000 rare diseases.
At present, the number of patients with all rare diseases in China has reached more than 20 million, with more than 200,000 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, and many patients have fallen into the dilemma of no drugs available or facing high medical burdens
.
For example, the drug Ravicti phenylbutyric acid glyceride, which is used to treat the rare disease urea cycle disorder, is priced at US$5,273 in the US market, and the annual usage fee is as high as US$695,900.
Even if it enters the domestic market, it is difficult for patients to bear
.
In addition, patients have expectations even for diseases such as spinal muscular atrophy, which are covered by medical insurance drugs
.
The reporter learned that the gene therapy drug Sovalrevir (Zolgensma) developed by Novartis for the treatment of spinal muscular atrophy can achieve long-term remission or even cure after only one intravenous injection
.
Because it is a one-shot cure, the price of sovaprevir is much higher than that of Nosinagen Sodium Injection.
The current price in the United States is 2.
125 million US dollars (about 13.
5 million yuan), which is known as the most expensive drug in the history of pharmaceuticals.

.
At present, the drug has been approved for marketing in nearly 40 countries and regions around the world
.
This year, the Center for Drug Evaluation of the State Food and Drug Administration of the People's Republic of China announced that the drug clinical trial application submitted by sovalprevir (Zolgensma) in China has obtained the implied license for clinical trials
.
Compared with the practical difficulties of having medicines but not being able to use them, what most rare disease patients look forward to is to alleviate the current "desperation" that has no cure. .
The reporter learned that among many rare diseases, less than 10% of the diseases have treatment drugs, and most rare diseases are still in a state of no cure
.
Experts believe that from the perspective of drug research and development, the rare disease patient base is small and the return on research and development investment is extremely low, resulting in insufficient motivation for pharmaceutical companies to develop rare disease drugs
.
Breaking through the difficulties in the treatment of rare diseases, there are still many problems to be solved.
Drugs are difficult and expensive.
They are only the most obvious of the many difficulties in the treatment of rare diseases.
However, behind this are a series of difficulties such as difficulty in diagnosing diseases, insufficient drug supply, and lack of professionals.
Deep problems await to be solved
.
The first is the difficulty of diagnosing rare diseases
.
The wide variety and complex clinical manifestations make the diagnosis difficult, which is the primary difficulty in the diagnosis and treatment of rare diseases
.
Even some rare disease patients have taken 20 to 30 years to be diagnosed
.
Ding Jie, a professor at Peking University First Hospital and chairman of the Rare Diseases Branch of Beijing Medical Association, said that taking mucopolysaccharidosis type II (MPSII) as an example, the diagnosis of patients generally faces multiple tossing and turning, some even more than 50 times.
It will take about five or six years to be diagnosed
.
The organ system damage caused by MPSII is almost irreversible.
If the disease can be diagnosed at an early stage and given timely treatment, the disease process can be prevented and delayed, and serious complications can be avoided
.
Secondly, problems such as uneven distribution of medical resources and lack of professional talents further restrict the treatment of rare diseases
.
Many experts interviewed pointed out that rare diseases involve multiple disciplines such as blood, orthopedics, nerves, kidneys, respiratory, skin and severe diseases
.
Due to the uneven distribution of medical resources, in addition to the developed eastern provinces, clinicians in many regional hospitals generally lack professional knowledge of rare diseases, and the multidisciplinary consultation mechanism needs to be improved, which makes it impossible to treat patients with rare diseases in a timely manner
.
Zhao Yuying, director of the Department of Neurology, Genetic Metabolic Diseases and Rare Diseases, Qilu Hospital of Shandong University, told reporters that the diagnosis and treatment of rare diseases not only involves clinicians in various disciplines, but also requires nursing, rehabilitation, nutrition, genetics, assisted reproduction, testing, pharmacy and other departments work together
.
Even if there is no particularly effective drug for the related disease, the diagnosis can be made as soon as possible after consultation with experts in multiple fields, and certain rehabilitation measures can be taken, so that patients and their families do not need to spend any more effort and blindly seek medical treatment
.
The third is that domestic pharmaceutical companies are lagging behind in the research and development of rare disease drugs
.
Judging from the negotiation results of the medical insurance catalogue in 2021, most of the drugs for the treatment of rare diseases included in the medical insurance are developed by foreign pharmaceutical companies
.
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 uncertainty of the market size, domestic enterprises lack enthusiasm for R&D and production
.
A report released by the global biotechnology industry organization shows that from 2011 to 2020, among the 9,704 drug clinical development projects carried out around the world, it took an average of 10.
5 years to go from phase I clinical to FDA approval.
This process for disease medicines takes 4 years longer than other medicines
.
At the same time, clinical trials of rare disease drugs are also characterized by small sample size, large heterogeneity, and difficulty in recruitment, which make screening and randomization failure rates significantly higher at any stage of clinical trials
.
Several heads of pharmaceutical companies told reporters that the research and development time and cost of rare disease drugs and tumor drugs are not much different, but the market for rare disease drugs is small, and the willingness of domestic pharmaceutical companies to research and develop is relatively low
.
Coupled with the lack of domestic policy support for rare disease drugs, and the lack of compensation and incentive mechanisms in production and R&D, very few rare disease drugs have entered the clinical stage
.
Taking multiple measures to form a policy synergy to "get the bottom line" for more rare disease patients In recent years, China has been actively promoting medical security for rare disease groups
.
In 2018, five ministries and commissions including the National Health Commission and the Ministry of Science and Technology jointly released the "First Batch of Rare Diseases List", involving a total of 121 rare diseases, to carry out rare disease prevention, screening, diagnosis, treatment and rehabilitation for Chinese medical institutions, and Provide reference and basis for relevant scientific and technological research and development, social security, and charitable assistance policies
.
In addition, relevant departments implement priority review and approval for rare disease treatment drugs
.
In just a few years, more than 60 drugs for rare diseases have been approved for marketing, and more than 40 drugs for rare diseases have been included in the National Medical Insurance Drug List, involving 25 diseases
.
These drugs not only fill the gap of related rare disease treatment drugs, but also quietly light up the hope of each family
.
Many experts suggested that it is still not enough to solve the medical insurance for rare diseases only by unilateral efforts.
In the future, it is necessary to make joint efforts in the construction of the medical system, pharmaceutical research and development, scientific research incentives, disease prevention and publicity and other channels, so that a series of policies can form a joint force to provide More rare disease patients "get the bottom line"
.
The first is to encourage localities to establish rare disease diagnosis and treatment centers as soon as possible to form a multidisciplinary diagnosis and treatment system
.
Qilu Hospital of Shandong University has established a Rare Disease Diagnosis and Treatment Center, which has treated many patients with rare diseases, especially the multi-disciplinary and multi-department participation model has achieved good results
.
Luo Xiaoping, vice chairman of the Pediatrics Branch of the Chinese Medical Association, pointed out that in some third-class hospitals in provinces with developed medical resources, the level of diagnosis and treatment of rare disease diagnosis and treatment centers has been comparable to that of European and American countries, and this model needs to be promoted in more provinces
.
The second is to improve support measures to stimulate the enthusiasm of local pharmaceutical companies to develop orphan drugs
.
Many experts believe that domestic pharmaceutical companies should be given more policy-level support for the R&D and production of rare disease drugs, and should be guided in terms of tax relief and R&D funding subsidies
.
For example, drugs for the treatment of rare diseases can enjoy tax relief, and the maximum amount of relief is 50% of the relevant clinical trial costs of the drug; open up a "green channel" for approval of new drugs for rare diseases, and enjoy incentives such as a certain period of market exclusivity after the drug is approved for marketing policy
.
The third is to establish a multi-level medical security system to effectively reduce the burden on patients with rare diseases
.
The consensus of the industry is that commercial insurance, social assistance and other roles should be brought into play
.
The reporter learned that due to the introduction of urban customized supplementary commercial insurance in various parts of the country in the past two years, when treating spinal muscular atrophy patients in some areas, the expenses were reimbursed twice on the basis of medical insurance, and the personal burden was further reduced. .
The fourth is to strengthen the popularization of rare diseases, so that rare diseases are "not uncommon" in the public's cognition
.
Zhao Yuying said that nearly 80% of rare diseases are genetic diseases, but most patients talk about "genetic" discoloration.
The popularization of related knowledge, as well as the publicity and education work of genetic counseling, prenatal screening of high-risk families, and prenatal and postnatal care are in some cases.
Rural areas are prone to oversights
.
In the popularization of rare disease knowledge, a lot of popularization work needs to be done in the future
.
(Shao Luwen)