There are currently 207 diseases that have been included in the rare disease catalog in my country, and there are about 1,400 known rare diseases in China, and more than 7,000 known rare diseases in the world.

  Some industry experts have called for accelerating the formulation of my country's programmatic laws on rare diseases, clearly defining concepts such as rare diseases and orphan drugs in my country, and using this as a series of related follow-up policies for my country's rare disease drug research and development, social security, and medical assistance. basis for formulation.

  There are many types of rare diseases but the proportion of the population covered is small.

To a certain extent, diseases included in the rare disease catalog can be the first to gain attention from society, pharmaceutical companies and relevant departments, and receive "preferential treatment" in many aspects, including disease research, diagnosis and treatment, new drug research and development, and medical security.

  In 2018, the National Health Commission and five other departments released the "First Batch of Rare Disease Catalog", including 121 diseases.

On September 20, 2023, the National Health Commission issued the "Notice on Publishing the Second Batch of Rare Disease Catalog", which included 86 new rare diseases.

  Zhang Shuyang, vice chairman and secretary-general of the China Rare Disease Alliance and president of Peking Union Medical College Hospital, said at the main venue of the "17th International Rare Disease Day" series of events co-sponsored by the China Rare Disease Alliance and other institutions that at present, following the rare disease Patients within the disease catalog can obtain corresponding rights and interests protection, but there are still many rare diseases that are not included in the rare disease catalog. This is a bottleneck that urgently needs to be overcome.

In other words, China's rare disease prevention and treatment needs to move towards the rule of law.

  Wang Chenguang, former dean of Tsinghua University Law School, previously mentioned that the rare disease catalog is not a law and has no mandatory binding force, but it is a policy guideline, a "soft law" with clear policy guidance.

  Recently, Wang Chenguang once again expressed his opinion that in order to solve the many difficulties in national legislation on rare diseases, the next step is for the National Health Commission, the National Medical Insurance Administration and other relevant ministries and commissions to further issue corresponding regulations and strengthen the national rare disease diagnosis and treatment network and registration network. construction work.

  Zhang Shuyang also mentioned that a key reason why there is still no official definition of rare diseases in China is that the number of patients is still unclear.

"Why we are actively promoting the establishment of a national information system for (rare diseases) is to gather dispersed resources to support the introduction and implementation of relevant policies." She gave an example that financial allocations also have a bottom line to support the field of rare diseases. Understanding the patient's profile is the first step in all work.

  Song Ruilin, Vice Chairman of the China Rare Disease Alliance and Executive Chairman of the China Pharmaceutical Innovation Promotion Association, proposed at the "17th International Rare Disease Day" series of events that the disease inclusion criteria should only be based on prevalence, neonatal morbidity, patient It is formulated from the perspective of population size to meet the clinical needs of patients with rare diseases.

  As an important public policy, the formulation of the rare disease catalog should not only consider the incidence of the disease, but also take into account economic affordability and whether there are clear and effective treatments.

Up to now, the diseases included in the rare disease catalog are all “curable” rare diseases.

According to relevant statistics, there are no specific drugs for 95% of the 7,000 rare diseases in the world.

  Song Ruilin believes that the current rare disease catalog has limitations in the definition of rare diseases. It emphasizes "disease treatment" and neglects "innovative research and development". From the perspective of new drug research and development, it will form an "invisible wall" and restrict exploration in the field of rare diseases.

  It is worth mentioning that last year, the drug "accelerated channel" program was expanded to the field of rare diseases for the first time, which laid the foundation for the subsequent upgrade of payment and diagnosis and treatment policies for rare diseases outside the catalog.

  According to the "Center for Drug Evaluation to Accelerate the Review of Innovative Drug Marketing Authorization Applications (Trial)" issued by the Center for Drug Evaluation of the State Food and Drug Administration at the end of March last year, for rare disease drugs, the review work should be accelerated relative to the scope of priority review. The scope of application of the specification is no longer limited to the "Rare Disease Catalog". Rare diseases are defined from the perspective of clinical practice and from the perspective of incidence/prevalence.

For rare diseases outside the catalog, not only can they apply for accelerated review work standards during the research and development stage, but they can also obtain priority review rights during the marketing review stage.

  Song Ruilin further suggested: In terms of disease diagnosis, it is recommended that rare diseases outside the catalog be included in the National Rare Disease Diagnosis and Treatment Collaboration Network, from voluntary inclusion to unified inclusion, and promote the registration of patients with rare diseases outside the catalog.

  First Finance Author: Wu Simin