2021 China Rare Disease Conference: Focus on the prevention and treatment of rare diseases, for love

China Youth Daily and China Youth Network reporter Maggie Cheung

On December 18, the "2021 China Rare Disease Conference" was held in Beijing under the guidance of the National Health Commission and the Red Cross Society of China, and sponsored by the China Rare Disease Alliance, the Red Cross Foundation of China, the China Pharmaceutical Innovation Promotion Association and the Chinese Hospital Association. With the theme of "Gathering because of the Rare, Walking together for Love", the conference set up the opening ceremony, the main forum, 15 sub-forums and 18 online special areas, and the participants discussed and exchanged views on the themes of "rare disease prevention and security policy, drug innovation and research and development, clinical diagnosis and treatment, basic research, real-world research and information technology application".

Chen Zhu, vice chairman of the Standing Committee of the National People's Congress and president of the Red Cross Society of China, sent a congratulatory letter. The congratulatory letter said that since the Eighteenth National Congress of the Communist Party of China, the special field of rare diseases has attracted increasing attention from the state and all parties in society. On the basis of strengthening policy research and system construction, the relevant departments of national health, science and technology, drug supervision, medical insurance and other relevant departments have cooperated to form a joint work force by formulating a rare disease catalog, establishing a national rare disease diagnosis and treatment cooperation network, strengthening regional collaboration and remote support, exploring a "Chinese model" to solve the problem of rare disease prevention and treatment, and jointly promoting the cause of rare disease prevention and protection to a new level.

From 700,000 to 30,000, "sky-high drugs into medical insurance" to save the lives of patients with rare diseases

Rare diseases place a huge financial burden on patients and families. Many patients with rare diseases have to rely on imported drugs, and the annual drug cost is often more than 100,000 or even millions, and many families "look forward to medicine and sigh".

This year, a total of 7 rare disease drugs were successfully negotiated and included in medical insurance, which greatly reduced the price of rare disease drugs. In particular, the sharp price reduction of spinal muscular atrophy (SMA) injection was included in the catalog, from an average annual price of 700,000 to more than 30,000 yuan, coupled with the cost reimbursement of medical insurance, which basically solved the patient's medication problem and greatly reduced the patient's economic burden.

Li Tao, deputy director of the National Medical Security Bureau, introduced that since its establishment in 2018, the National Medical Security Bureau has dynamically adjusted the medical insurance drug catalogue once a year for four consecutive years, accumulatively including 507 new drugs and good drugs in the catalog, and achieving the continuous expansion of the scope of drug protection and the optimization of the structure through the adjustment of the catalog. Up to now, more than 60 kinds of rare disease drugs in China have been approved for marketing, of which more than 40 have been included in the national medical insurance directory, involving 25 diseases.

"At the same time, we should also see that the current positioning of basic medical insurance is still basic, and we must insist on doing our best and doing what we can." In the next step, the National Medical Insurance Bureau will work with all parties to jointly take a series of measures to continuously promote the protection of drugs for patients with rare diseases. On the one hand, we will continue to promote the adjustment of the medical insurance drug catalogue, and give priority to the inclusion of qualified rare disease drugs in the medical insurance drug catalog; on the other hand, actively promote the establishment and improvement of multiple medical insurance systems, give play to the role of basic medical insurance, major illness insurance, charitable assistance and other security roles, and further improve the level of medical security for rare diseases. Li Tao said.

Crack the problems of rare diseases "difficult to diagnose", "difficult to use drugs" and "no medicine"

Peking Union Medical College Hospital is the leading hospital of the National Rare Disease Diagnosis and Treatment Collaboration Network, and Wu Peixin, secretary of the Party Committee of the hospital, introduced that in response to the problem of "difficult diagnosis" of rare diseases, Zhang Shuyang, president of the hospital, will use lunch time to lead experts from various departments to conduct multidisciplinary consultations for rare patients. Rare diseases are "difficult to use drugs" and "no drugs", and the hospital actively explores a new model of one-time imported special purchase and sympathetic drugs for urgently needed drugs in clinical practice, and strives to open up medication channels for patients.

"We pay close attention to the drug needs of rare disease patients, guide enterprises to strengthen the research and development of special drugs for the treatment of rare diseases, incorporate rare disease drug industrialization projects into key tasks of engineering research, promote the establishment of rare disease drug research and development platforms, and support and encourage enterprises to give full play to the main role in rare disease drug research and development." At the same time, we will incorporate rare disease drugs into the management of small varieties of drugs and shortage drugs, carry out centralized production base construction and production and supply monitoring, and promote the continuous improvement of rare disease drug supply guarantee capabilities. Wang Jiangping, vice minister of the Ministry of Industry and Information Technology, said.

Chen Shifei, deputy director of the State Drug Administration, introduced that the State Food and Drug Administration has continuously optimized the review and approval procedures to accelerate the listing of new drugs for rare diseases. This year, the State Food and Drug Administration newly approved 10 rare disease drugs such as risperam oral solution dispersion and brosoyuzumab injection for the treatment of rare diseases such as spinal muscular atrophy, youth Parkinson's disease, hyperammonemia and so on, filling the gap in the treatment of related rare diseases in China, and bringing hope to more patients with rare diseases to delay the development of their diseases and improve their quality of life.

In 2020, the newly revised Measures for the Administration of Drug Registration clearly stipulates that innovative drugs and improved new drugs for the prevention and treatment of rare diseases with obvious clinical value will be included in the priority review and approval procedures, and among all drug listing applications, the review and approval time limit for rare disease drugs is the shortest. For rare disease drugs that have been listed overseas and are not listed in China that are urgently needed for clinical use, the trial and approval will be completed within 70 days. At the same time, new drugs for rare diseases that have been listed overseas will be included in the special channel review and approval. At present, three batches of new drugs urgently needed for clinical use have been selected and released, of which rare disease treatment drugs exceed 50% of the total number of selected drugs. Rare disease treatment drugs included in the special channel are completed within 3 months.

The complete industrial system and strong supply capacity of China's pharmaceutical industry also provide a solid guarantee for solving the problems of "difficult to use drugs" and "no drugs" for patients with rare diseases, and to safeguard people's life safety and health.

Wang Jiangping introduced that during the "Thirteenth Five-Year Plan" period, the number of new drugs under development in China jumped to the second place in the world, more than 1,000 new drugs were declared for clinical trials, 47 domestic innovative drugs were approved for listing, and breakthroughs were made in the international registration of innovative drugs. In addition, domestic enterprises have added 2941 new drug production approvals, and a number of key disease control vaccines have been industrialized. The first batch of rare diseases listed 121 rare diseases, and 83 therapeutic drugs have been listed in China.

Strengthen the prevention and treatment of rare diseases and improve the health level of the whole people

In 2018, the National Health Commission and relevant departments issued the first catalogue of rare diseases, including a total of 121 diseases. Li Bin, deputy director of the National Health Commission, said that for rare diseases to be managed by a list of rare diseases in line with China's national conditions, the first batch of rare diseases directory provides an important reference for various departments to carry out rare disease prevention and control work, and promotes the rapid development of rare disease prevention and treatment in China.

Li Bin stressed that doing a good job in the prevention and treatment of rare diseases is of great significance to protecting citizens' right to health, improving the health level of the whole people, and building a healthy China. "The prevention and treatment of rare diseases is a moral and political project that benefits the people, and let us adhere to the reverence for life, fulfill our commitment to health, care for every life that is born extraordinary, and make new and greater contributions to improving the health level of the whole people, promoting the construction of a healthy China, and comprehensively opening up the construction of China's socialist modern power." Li Bin said.

Academician Zhong Nanshan, a recipient of the Order of the Republic and an adviser to the National Expert Committee on the Diagnosis and Treatment of Rare Diseases, said that although rare diseases are rare, in China, the absolute number of any rare disease is very large, and the concern for rare diseases reflects the national policy of the party and the state of "life first". In addition, rare diseases are often found or diagnosed in the analysis of a variety of diseases by clinicians, which drives the level of differential diagnosis of diseases.

"In-depth research on rare diseases will provide new ideas for its prevention and treatment." For example, we found that lymphangiomyosidosis has different subtypes and genotypes. In this way, there should be differences in the choice of drugs in treatment, and China's research on rare diseases will make new contributions to the prevention and treatment of this field. Academician Zhong Nanshan said.

Source: China Youth Daily client