Creating more conditions for rare disease diagnosis and treatment brings more hope (health focus)

On January 1 this year, the new version of the national medical insurance drug list included in the treatment of spinal muscular atrophy, a special drug for the treatment of spinal muscular atrophy, was implemented, and the drug burden of patients was significantly reduced. The picture shows the medical staff of xiamen Maternal and Child Health Hospital in Fujian Province preparing to inject nocinnasine sodium injection into the child. People's Vision

Under the warm spring sun, the 11-month-old Ming Ming has begun to learn teeth and teeth. On January 14 this year, this child with severe combined immunodeficiency was discharged from Beijing Children's Hospital affiliated to Capital Medical University. Hospitalized for nearly half a year, through the diagnosis and treatment of a multidisciplinary team of experts, this rare disease child was given a new life.

This year, "strengthening rare disease research and drug use guarantees" 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 become increasingly perfect, the approval of new drugs for rare diseases has been accelerated, and the price of some rare disease drugs has been greatly reduced, bringing hope to more rare disease patients.

Shorten the diagnosis time and solve the problem of multidisciplinary consultation

Rare diseases are a general term for a type of disease with a very low incidence and prevalence, and there are now more than 7,000 known rare diseases in the world. Despite the low prevalence, patients with rare diseases are not uncommon due to the large number of diseases.

"At present, less than 5% of rare diseases can be effectively treated, and what is even more regrettable is that more than half of the rare disease patients are children, who are born or in childhood, and about 30% of children with rare diseases do not live longer than 5 years." Zhang Guojun, director of the Rare Disease Center of the National Children's Medical Center, said.

With the continuous improvement of the level of economic and social development, the mainland attaches increasing importance to rare diseases. In 2018, the mainland issued the "First Catalogue of Rare Diseases", which included 121 diseases with "relatively high incidence, heavy disease burden, and strong treatability" as the priority standard.

The first step in treating the disease is to make a correct diagnosis, and difficult diagnosis is the first difficulty encountered by patients with rare diseases. In September last year, Fan Fan, a rare disease patient weighing only 18 kilograms, was admitted to Beijing University of Aeronautics and Astronautics. Fan Fan's infancy has been transferred to many hospitals and still cannot be diagnosed. A Beijing doctor who happened to be returning to his hometown to visit his relatives suggested a detailed investigation at the First Hospital of Peking University, which gave Fanfan, who was suffering from congenital muscular dystrophy, an early treatment opportunity.

The insufficient ability to identify and diagnose rare diseases restricts the improvement of rare disease diagnosis and treatment capabilities. According to the "2020 China Rare Disease Comprehensive Social Survey" released by the China Rare Disease Alliance, among the more than 20,000 patients who participated in the survey, 15.5% of the patients needed to go through 1 to 4 years of diagnosis, and 5% of the patients needed to go through 5 to 20 years of diagnosis, with an average diagnosis time of 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 Commission selected 324 hospitals to form a national rare disease diagnosis and treatment collaboration network, which realized remote consultation, two-way referral, and graded diagnosis and treatment, which greatly facilitated patients.

"As the national-level leading hospital of the National Rare Disease Diagnosis and Treatment Collaboration Network, we have formed a concord model of multidisciplinary consultation and radiated to the whole country. At present, more than 100 collaborative network hospitals have participated in remote consultation. "This has shortened the average time for patients to make a definitive diagnosis from the past 4 years to 4 weeks." ”

Nowadays, the First Hospital of Peking University and Beijing Children's Hospital have established an in-hospital consultation system, which provides a reliable guarantee for the early detection and early treatment of rare diseases.

Accelerate review and approval, and 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 single-disease patients, the research and development of rare disease drugs is difficult, the investment is high, and the risk and return are difficult to predict, and only a few pharmaceutical companies are willing to develop.

Xiong Hui, deputy director of the Department of Pediatrics at Peking University First Hospital, said that although some diseases are clearly diagnosed, there are no effective treatment drugs; some diseases have treatment drugs abroad, but they are not listed in China; and a small number of diseases, although they can buy treatment drugs in China, are expensive.

In recent years, the mainland has issued a number of policies to encourage the innovation of rare disease drugs, open up green channels, and accelerate review and approval. For example, in March this year, a pharmaceutical company in the mainland submitted an application for the imitation listing of clobar tablets and received it, which is expected to solve the drug dilemma of some children.

Tang Ling, a reviewer of the First Department of Chemical Drugs of the Drug Evaluation Center of the State Food and Drug Administration, believes that there is an urgent clinical demand for rare disease drugs in the mainland, and vigorously encouraging the research and development of new drugs is the fundamental measure to get rid of the dilemma of rare disease patients.

In July 2020, the State Food and Drug Administration organized the formulation of the "Breakthrough Therapeutic Drug Review Work Procedures (Trial)" to encourage research and creation of new drugs and accelerate the process of drug research and development with obvious clinical advantages. In order to encourage pharmaceutical companies to actively carry out research and development of rare disease drugs 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 drugs for rare diseases. After 2019, a number of local companies focusing on the research and development of rare disease drugs have continued to obtain financing.

"From a clinical point of view, if the diagnosis is clear, about 10% of patients with rare diseases can use drugs effectively. However, there are many levels of medication, even if the diagnosis cannot be definitive, if it can improve symptoms and stabilize the condition, it is also of great help to patients. Zhang Guojun said.

"My son is participating in a clinical trial of a new drug, and in the more than 10 years since the child's diagnosis, we really feel that the country is paying more and more attention to rare diseases, and more and more new drugs are also being used." Ms. Han, a parent of a child with rare diseases in Beijing's Chaoyang District, told reporters.

At the beginning of this year, many patients with spinal muscular atrophy across the country used the Medicare drug Nocinasin sodium injection. The price of this special drug for the treatment of spinal muscular atrophy was as high as 700,000 yuan per injection, and many patient families could not afford it because of the need for lifelong medication. In November last year, after negotiations on the national medical insurance catalogue, the price of sodium Northinal was reduced to 33,000 yuan per injection, and after medical insurance reimbursement, the cost of each individual per injection was about 10,000 yuan, and the annual drug burden dropped significantly.

Li Tao, deputy director of the National Medical Insurance Bureau, said that by the end of last year, a total of more than 60 rare disease drugs in the mainland had been approved for marketing, of which more than 40 drugs were included in the national medical insurance drug list, involving 25 diseases.

Multi-party coordination efforts to improve the level of treatment of rare diseases

Although rare disease patients are a "small group", their fate has attracted much social attention. Improving the level of treatment of rare diseases is related to the happiness of thousands of families.

Find out the "bottom of the family" of rare diseases and provide better treatment for rare disease patients. In 2016, Peking Union Medical College Hospital and 19 top hospitals in the United Nations jointly established the "China National Rare Disease Registration System". According to reports, this platform supports rare disease-related clinical research and new drug or device research by carrying out registration studies of rare diseases and multiple diseases, collecting clinical data and biological samples of cases, and building a rare disease clinical database and biological sample bank of Chinese population. By the end of 2021, the registration system has covered 101 collaborating units in 29 provinces, autonomous regions and municipalities directly under the Central Government; for 171 rare diseases,190 research cohorts have been established, 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.

Zhang Shuyang introduced that the establishment of the national rare disease diagnosis and treatment cooperation network has given a hand to the training of doctors. Peking Union Medical College Hospital has led a number of trainings in many places across the country, covering more than 80 rare diseases and more than 100,000 doctors.

"Through regional cooperation to expand the scope of radiation, we have cooperated closely with 47 provincial-level, more than 3,000 county-level medical institutions to continuously strengthen the establishment of an early diagnosis and treatment system for children with rare diseases." Zhang Guojun said that in the future, it is necessary to cooperate with multiple parties and work together to continuously improve the attention of rare disease groups and benefit the majority of children and their families.

"Rare disease treatment is very special, and indicators such as the average hospital stay and medical costs of patients often exceed those of other patients, which puts pressure on the performance appraisal of public hospitals." Zhang Guojun suggested that a performance appraisal plan for rare diseases should be introduced as soon as possible, so that public hospitals can relieve their worries and reflect the care for rare disease patients.

Drugs for the treatment of rare diseases are expensive due to limited dosages. In the case that the mainland's financial resources cannot fully support the diagnosis and treatment of rare diseases, how to reduce the burden on the families of rare disease patients has always been a topic of discussion in all walks of life.

In 2021, the General Office of the State Council issued the Opinions on Improving the Medical Insurance and Assistance System for Serious and Exceptionally Serious Diseases, which requires that by 2030 a medical security system with basic medical insurance as the main body and medical assistance as the foundation, supplementary medical insurance, commercial health insurance, charitable donations and medical mutual assistance will be fully established, and a medical security system for the common development of rare disease drugs will be explored, and multi-party resources will be integrated and comprehensive guarantees will be implemented.

Last year, many places launched an inclusive health commercial insurance "Huimin Bao", and many patients with rare diseases pinned their hopes on it. Ding Jie, a 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 Bao" less covers rare diseases and high-value drugs outside the national medical insurance drug list, and even if some insurance products are covered, most of them cannot meet the needs of patients' drug costs. At the two sessions of the National People's Congress this year, Ding Jie submitted proposals on jointly exploring the medical guarantee mechanism for rare disease drugs, continuing to improve the national drug negotiation mechanism for high-value drugs for rare diseases, incorporating rare disease drugs into commercial health insurance, and establishing a special medical aid fund for rare disease charity, etc., and strived to solve the problem of diagnosis and treatment of rare disease patients.

■ Further reading

According to the Definition of the World Health Organization, a rare disease is a disease or lesion that affects 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 the mainland, and 200,000 children with rare diseases are born every year.

The last day of February each year is international rare disease day. This year, 28 February marks the 15th International Rare Disease Day, with the theme "Share the Colours of Your Life".

Typography: Cai Huawei

People's Daily ( 2022-04-08 19th edition)