Improve the diagnosis and treatment system, speed up the approval of new drugs, reduce drug prices
Creating more conditions for rare disease diagnosis and treatment brings more hope (Health Focus)
Under the warm spring sun, 11-month-old Mingming has begun to babble.
On January 14 this year, the child with severe combined immunodeficiency was discharged from the Beijing Children's Hospital affiliated to Capital Medical University.
After being hospitalized for nearly half a year, through the diagnosis and treatment of a multidisciplinary team of experts, the child with rare disease was given a new life.
This year, "Strengthening Rare Disease Research and Drug Protection" was written into the "Government Work Report".
In recent years, the whole society has paid great attention to the "small group" of rare disease patients. The rare disease diagnosis and treatment system has been increasingly improved, the approval of new rare disease drugs has been accelerated, and the prices of some rare disease drugs have been greatly reduced, bringing hope to more rare disease patients.
Shorten diagnosis time and solve difficult problems through multidisciplinary consultation
Rare diseases are a general term for diseases with extremely low incidence and prevalence. There are more than 7,000 known rare diseases in the world.
Despite the low prevalence, patients with rare diseases are not uncommon due to the wide variety of conditions.
"Currently, less than 5% of rare diseases can be effectively treated, and it is even more regrettable that more than half of rare disease patients are children, and they develop the disease at birth or during childhood, and about 30% of rare disease children will not live long. Over 5 years old," said Zhang Guojun, director of the Rare Disease Center of the National Children's Medical Center.
With the continuous improvement of the level of economic and social development, my country has paid more and more attention to rare diseases.
In 2018, my country released the "First Batch of Rare Disease List", which included 121 diseases with "relatively high incidence, heavy disease burden, and strong treatability" as the priority criteria.
The first step in treating a disease is correct diagnosis. Difficulty in diagnosis is the first difficulty encountered by patients with rare diseases.
In September last year, Fan Fan, a rare disease patient weighing only 18 kg, was admitted to Beihang University.
Fanfan went to many hospitals in her infancy and still could not be diagnosed.
A Beijing doctor who happened to return to his hometown to visit relatives suggested that he go to Peking University First Hospital for a detailed examination, so that Fanfan, who was suffering from congenital muscular dystrophy, had an opportunity for early treatment.
Insufficient ability to identify and diagnose rare diseases restricts the improvement of rare disease diagnosis and treatment capabilities.
The "2020 Comprehensive Social Survey of Rare Diseases in China" released by the China Rare Disease Alliance shows that among the more than 20,000 patients who participated in the survey, 15.5% of the patients needed to experience 1 to 4 years of diagnosis, and 5% of the patients needed to experience 5 to 20 years. The average diagnosis time was 4.26 years.
Of these, 42% of patients also experienced misdiagnosis.
According to Zhang Shuyang, president of Peking Union Medical College Hospital, in 2019, the National Health and Health Commission selected 324 hospitals to form a national rare disease diagnosis and treatment cooperation network, thus realizing remote consultation, two-way referral, and hierarchical diagnosis and treatment, which greatly facilitated patients.
"As the national leading hospital of the National Rare Disease Diagnosis and Treatment Collaborative Network, we have formed a coordinated model of multidisciplinary consultation and radiated to the whole country. At present, more than 100 collaborative network hospitals have participated in the remote consultation." Zhang Shuyang said, " This has reduced the average time to a patient's diagnosis to four weeks from the previous four years."
Today, Peking University First Hospital, Beijing Children's Hospital, etc. have established in-hospital consultation systems, which provide a reliable guarantee for the early detection and early treatment of rare diseases.
Accelerate the review and approval to encourage the research and development of new drugs for rare diseases
Drugs for rare diseases are called "orphan drugs".
Affected by the complex pathogenic factors of rare diseases and the small number of patients with a single disease, the research and development of rare disease drugs is difficult, high investment, and unpredictable risk-return. Only a few pharmaceutical companies are willing to develop them.
Xiong Hui, deputy director of the Pediatrics Department of Peking University First Hospital, said that although some diseases have a clear diagnosis, there is no effective treatment drug; some diseases have treatment drugs abroad, but they are not on the market in China; for a few diseases, although treatment drugs can be purchased in China, but the price expensive.
In recent years, my country has introduced a number of policies to encourage innovation of rare disease drugs, opened up green channels, and accelerated review and approval.
For example, in March this year, a pharmaceutical company in my country submitted an application for the marketing of clobazam tablets and was accepted, which is expected to solve the medication dilemma of some children.
Tang Ling, a reviewer of the Department of Clinical Medicine of the Drug Evaluation Center of the State Food and Drug Administration, believes that there is an urgent clinical need for rare disease drugs in my country, and vigorously encouraging the development of new drugs is the fundamental measure to get rid of the predicament of patients with rare diseases.
In July 2020, the State Food and Drug Administration organized the formulation of the "Breakthrough Therapy Drug Review Work Procedures (Trial)" to encourage the research and creation of new drugs, and to speed up the development of drugs with obvious clinical advantages.
In order to encourage pharmaceutical companies to actively develop drugs for rare diseases and improve the efficiency and quality of clinical trials, in January this year, the State Food and Drug Administration issued the "Technical Guidelines for Clinical Research and Development of Drugs for Rare Diseases", which relatively relaxed the requirements for clinical trials.
The introduction of a series of policy measures has effectively promoted the research and development of rare disease drugs.
After 2019, a number of local companies focusing on the research and development of rare disease drugs continued to receive financing.
"From a clinical point of view, if the diagnosis is clear, about 10% of rare disease patients can take effective medication. But there are multiple levels of medication. Even if the diagnosis is not clear, if the symptoms can be improved and the condition can be stabilized, it will be of great help to the patient." Zhang Guojun said.
"My son is participating in a clinical trial of a new drug. It has been more than 10 years since the child was diagnosed. We really feel that the country is paying more and more attention to rare diseases, and there are more and more new drugs." Children with rare diseases in Chaoyang District, Beijing The parent, Ms. Han, told reporters.
At the beginning of this year, many spinal muscular atrophy patients all over the country used the medical insurance drug Nosinagen Sodium Injection.
The price of this special drug for the treatment of spinal muscular atrophy used to be as high as 700,000 yuan per injection. Due to the need for lifelong medication, many patients' families could not afford it.
In November last year, after negotiation on the National Medical Insurance Catalogue, the price of Nosinagen sodium was reduced to 33,000 yuan per injection. After reimbursement by medical insurance, the cost of each injection was about 10,000 yuan, and the annual drug burden was significantly reduced.
According to Li Tao, deputy director of the National Medical Insurance Administration, as of the end of last year, more than 60 rare disease drugs have been approved for marketing in my country, of which more than 40 drugs have been included in the National Medical Insurance Drug List, involving 25 diseases.
Multi-party collaborative efforts to improve the level of rare disease treatment
Although rare disease patients are a "small group", their fate has attracted social attention.
Improving the level of rare disease treatment is related to the happiness of thousands of families.
Find out the "family background" of rare diseases and provide better treatment for patients with rare diseases.
In 2016, Peking Union Medical College Hospital and 19 top domestic hospitals jointly established the "China National Rare Disease Registration System".
According to reports, this platform supports rare disease-related clinical research and new types of rare diseases by carrying out registration research on rare diseases, collecting clinical data and biological samples of cases, and constructing rare disease clinical databases and biological sample banks of the Chinese population. Drug or device development.
By the end of 2021, the registration system has covered 101 cooperative units in 29 provinces, autonomous regions and municipalities directly under the Central Government; 190 research cohorts have been established for 171 kinds/categories of rare diseases, and nearly 70,000 rare disease patients have been registered.
Through the National Rare Disease Direct Reporting System, 291 institutions have reported 540,000 rare disease cases.
According to Zhang Shuyang, the establishment of the National Rare Disease Diagnosis and Treatment Collaborative Network has provided a starting point for the training of doctors.
Peking Union Medical College Hospital took the lead in carrying out multiple trainings in many places across the country, covering more than 80 rare diseases and more than 100,000 doctors.
"We have expanded the scope of radiation through regional cooperation. At present, we have closely cooperated with 47 provincial-level and more than 3,000 county-level and municipal-level medical institutions to continuously strengthen the establishment of an early diagnosis and early treatment system for children with rare diseases." Zhang Guojun said that the future needs to be Multi-party cooperation and joint efforts will continuously increase the attention to rare disease groups, benefiting the majority of children and their families.
"The treatment of rare diseases is very special. The average hospitalization days and medical expenses of patients often exceed other patients, which puts pressure on the performance evaluation of public hospitals." Zhang Guojun suggested that a performance evaluation plan for rare diseases should be introduced as soon as possible, so that public hospitals can be relieved Worry about the future to reflect the care for patients with rare diseases.
Drugs for rare diseases are expensive due to limited use.
How to reduce the burden on the families of rare disease patients has always been a topic of discussion in all walks of life when my country's financial resources cannot fully support the diagnosis and treatment of rare diseases.
In 2021, the General Office of the State Council issued the "Opinions on Improving the Medical Insurance and Relief System for Serious Diseases", which requires that by 2030, the basic medical insurance will be the main body, medical assistance will be the foundation, and supplementary medical insurance, commercial health insurance, and charity will be completed. A medical security system developed jointly by donations and mutual medical assistance, and exploring the establishment of a drug security mechanism for rare diseases, integrating multiple resources, and implementing comprehensive security.
Last year, the inclusive health commercial insurance "Huiminbao" was launched in many places, and many rare disease patients pinned their hopes on this.
Ding Jie, member of the National Committee of the Chinese People's Political Consultative Conference and former vice president of Peking University First Hospital, found in the survey that the existing "Huimin Insurance" rarely covers rare disease high-value drugs outside the national medical insurance drug list, even if some insurance products are covered, Most of them can't meet the needs of patients' drug expenses.
This year, Ding Jie submitted a proposal on jointly exploring the rare disease drug medical security mechanism, continuing to improve the national drug negotiation mechanism for rare disease high-value drugs, incorporating rare disease drugs into commercial health insurance, and establishing a rare disease charity special medical aid fund. Proposal to urge to solve the problem of diagnosis and treatment of rare disease patients.
■Extended reading
According to the definition of the World Health Organization, rare diseases refer to diseases or lesions with the number of patients between 0.65‰ and 1‰ of the total population.
At present, there are more than 7,000 rare diseases in the world.
According to incomplete statistics, there are more than 20 million patients with rare diseases in my country, and 200,000 children with rare diseases are born every year.
The last day of February every year is International Rare Disease Day.
February 28 this year is the 15th International Rare Disease Day, with the theme "Sharing the Color of Your Life".
Our reporter Sun Xiuyan