Xinhua All Media + | rare disease life-saving drugs make "medical orphans" not alone

On December 18, the offline event venue of the 2021 China Rare Disease Conference. (Courtesy of the organizer)

Zheng Yuning is a rare disease patient with Pompe's disease, who has been living in the hospital's ICU ward for many years, relying on the incision at the throat tube for ventilator oxygen, relying on her parents to press the abdomen to help expel sputum, and her body has become "S" shaped due to scoliosis.

In China, there are about 20 million patients with various rare diseases, including Zheng Yuning, with few clinical cases and little experience, and rare diseases are often called "medical orphans".

Some rare disease drugs have entered medical insurance and rare disease treatment drugs have more than half of the 81 clinically urgently needed overseas drugs selected and released in three batches... This series of measures all reflect the concept of "life first". At the 2021 China Rare Disease Conference held recently, experts conducted in-depth exchanges on this topic.

No medicine? -- Stimulating drug research and development and exploring compassionate drug use

The absence of medical treatment, the absence of medicine, and the lack of insurance are the common "crux" faced by patients with rare diseases. The research and development of rare disease drugs is difficult, the investment is high, and the cycle is long, and it has been difficult to meet the clinical needs of patients. The data shows that there are more than 7,000 known rare diseases in the world, of which 95% of rare diseases have no effective treatment drugs.

"The number of rare diseases is relatively small compared to major common diseases, but the absolute number is not small." Chen Kaixian, an academician of the Chinese Academy of Sciences, pointed out that it is very urgent to promote the research and development of rare disease drugs, strengthen the basic research and clinical translational research of rare disease drugs, and advocate pharmaceutical companies to actively invest in the research and development of rare disease drugs.

"We pay close attention to the medication needs of patients with rare diseases." Wang Jiangping, member of the party group and vice minister of the Ministry of Industry and Information Technology, introduced that through the implementation of the "Guidelines for the Development of the Pharmaceutical Industry" and the "14th Five-Year Plan for the Development of the Pharmaceutical Industry", we will guide enterprises to strengthen the research and development of special drugs for the treatment of rare diseases, and support enterprises to give full play to the main role in the research and development of rare disease drugs.

Wang Jiangping said that rare disease drugs will be included in the management of small varieties of drugs and shortage drugs, carry out the construction of centralized production bases and monitoring of production and supply, and the docking of supply and demand, promote the establishment of a shortage drug supply guarantee alliance, and give full play to the role of the national pharmaceutical reserve reservoir.

Wu Peixin, secretary of the Party Committee of Peking Union Medical College Hospital, said that in response to rare diseases , in June this year , with the efforts of the State Food and Drug Administration and others , the hospital obtained the world's leading phase III clinical drugs from Switzerland, helping a rare disease patient with paroxysmal hemoglobinuria regain a new life and achieving the first sympathetic drug for rare diseases.

Chen Shifei, deputy director of the State Drug Administration, introduced that the State Food and Drug Administration and the National Health Commission jointly issued an announcement on matters related to the review and approval of new drugs that are urgently needed for clinical use, and more than half of the 81 clinically urgently needed overseas drugs selected and released in the three batches were rare disease treatment drugs.

Difficult to use? -- Speeding up review and approval

The "difficulty of medication" for rare diseases is a major problem facing patients with rare diseases around the world.

In recent years, China has given priority to the review and approval of drugs for the treatment of rare diseases. The newly revised Measures for the Administration of Drug Registration in 2020 clearly stipulate 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 the rare disease drugs that have been listed overseas and are not listed in China that are urgently needed for clinical trial will be completed within 70 days. Chen Shifei introduced that at present, 26 rare disease drugs have been approved for listing through the special channel of urgently needed overseas new drugs.

"Among all drug listing applications, the time limit for review and approval of rare disease drugs is the shortest." Chen Shifei said that in 2021, the State Food and Drug Administration newly approved 10 rare disease drugs such as lisporam oral solution for the treatment of rare diseases such as spinal muscular atrophy. These drugs fill the gap in the treatment of related rare diseases in China, and bring hope for more patients with rare diseases to delay the development of their diseases and improve their quality of life.

It is understood that mitotan, a special drug for the treatment of adrenal cortical cancer, has not yet been registered and listed in China, and patients can only rush abroad to buy or look for high-priced purchasing agents to obtain drugs. Zhang Shuyang, chairman of the Second Rare Disease Diagnosis and Treatment and Security Expert Committee of the National Health Commission and president of Peking Union Medical College Hospital, led the team to organize policy consultation, find procurement channels, prepare declaration materials, and open up the "one-time import" channel for rare disease drugs urgently needed in domestic clinics under the cooperation of multiple departments, and the first batch of 100 bottles of drugs has benefited more than 20 patients.

"Exploring the one-time import special purchase of urgently needed drugs in clinical practice is also an important way to solve the 'difficulty of medication' for rare diseases." Wu Peixin said.

Can't afford medicine? -- Developing a multi-level medical security system

More than 60 rare disease drugs have been approved for marketing, and more than 40 rare disease drugs have been included in the national medical insurance drug list... This incident of benefiting people's livelihood is quietly lighting up new hopes for families.

The reporter learned in the interview that the cost of rare disease drugs is mainly due to the small number of patients, but most of them are life-saving drugs. Experts attending the meeting believe that only by lowering the price first can we talk about the issue of security.

Li Tao, deputy director of the National Medical Security Bureau, said that as of now, more than 60 rare disease drugs in China have been approved for listing, and more than 40 have been included in the national medical insurance drug list, involving 25 diseases. Through the negotiation of access to rare disease drugs, the price of rare disease drugs has been greatly reduced, and a total of 7 rare disease drugs have been successfully negotiated this year, with an average reduction of 65%.

Li Tao said that the next step will continue to promote the adjustment of the medical insurance drug catalogue, give priority to the inclusion of qualified rare disease drugs in the medical insurance drug catalog, improve the establishment of multiple medical insurance systems, give play to the role of basic medical insurance, major illness insurance, charitable assistance and other multiple guarantees, and further improve the level of medical security for rare diseases.

This is the good news that makes rare disease patients excited - the journal of rare disease research was launched, the Rare Disease Co-assistance Fund of the Red Cross Foundation of China was released, and the public welfare fund of the central special lottery supported the launch of the national rare disease diagnosis and treatment level and implementation capacity improvement project...

"China is working together to create a 'Chinese sample' to crack the use of drugs for rare diseases, and it is our common wish not to leave a single patient behind." Rare disease patients will get better tomorrow. Li Linkang, executive director of the China Rare Disease Alliance, said. (Reporters Li Heng and Tian Xiaohang)