At present, the number of diseases included in the list of rare diseases in China is 207, while there are more than 1,400 known rare diseases in China and more than 7,000 known rare diseases in the world.
Some industry experts have called for speeding up the formulation of programmatic laws on rare diseases in China, clearly defining the concepts of rare diseases and orphan drugs in China, and using them as the basis for the formulation of a series of related follow-up policies such as drug research and development for rare diseases, social security, and medical assistance in China.
There are many types of rare diseases, but the proportion of people covered is small. To a certain extent, the diseases included in the list of rare diseases can be the first to receive the attention of society, pharmaceutical companies and relevant departments, and receive "preferential treatment" in many aspects such as disease research, diagnosis**, new drug research and development, and medical security.
In 2018, the National Health Commission and other five departments released the "First Batch of Rare Disease Catalogue", which included 121 diseases. On September 20, 2023, the National Health Commission issued the Notice on Announcing the Second Batch of Rare Disease Catalogs, which included 86 new rare diseases.
Zhang Shuyang, vice chairman and secretary general of the China Alliance for Rare Diseases and president of Beijing, said at the main venue of the "17th International Day for Rare Diseases" series of activities co-sponsored by the China Alliance for Rare Diseases and other institutions, that at present, patients in the list can obtain corresponding rights and interests according to the rare disease catalog, but there are still many rare diseases that have not been included in the rare disease catalog, which is a bottleneck that needs to be broken through urgently. 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 catalogue 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 said that at present, in order to solve many difficulties in the national legislative work of rare diseases, the next step is that the National Health Commission, the National Health Insurance Administration and other relevant ministries and commissions should further introduce corresponding regulations to strengthen the construction of the national rare disease diagnosis and treatment network and registration network.
Zhang Shuyang also mentioned that one of the key reasons why there is no official definition of rare diseases in China so far is that the number of patients is still unclear. "The reason why we are actively promoting the establishment of a national information system for (rare diseases) is to gather scattered resources to support the introduction and implementation of relevant policies. For example, she said that there is a bottom line for financial allocation to support the field of rare diseases, and finding out the patient base is the first step in all work.
Song Ruilin, Vice Chairman of the China Alliance for Rare Diseases and Executive Chairman of the China Association for the Promotion of Pharmaceutical Innovation, proposed at the series of activities of the 17th International Day of Rare Diseases that the inclusion criteria of diseases should be formulated only from the perspectives of prevalence, neonatal incidence, and number of patients, so as to meet the clinical needs of patients with rare diseases.
As an important public policy, the formulation of the rare disease directory should not only consider the incidence of diseases, but also the affordability and whether there are clear and effective means. Up to now, the diseases included in the list of rare diseases are all rare diseases with "medicine and cure". According to relevant statistics, 95 of the world's 7,000 rare diseases have no specific drugs.
Song Ruilin believes that the current rare disease catalog has limitations on the definition of rare diseases, emphasizing "disease" over "innovative research and development", which will form an "invisible wall" from the perspective of new drug research and development, restricting the exploration of the field of rare diseases.
It is worth mentioning that last year, the "accelerated channel" program for drugs was expanded for the first time in the field of rare diseases, which laid the foundation for the subsequent upgrade of the payment and diagnosis and treatment policies for rare diseases outside the catalog.
According to the "Specifications for Accelerating the Review of Marketing Authorization Applications for Innovative Drugs by the Center for Drug Evaluation of the State Food and Drug Administration (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 scope of application of the accelerated review work specifications is no longer limited to the "Rare Disease Catalog", and rare diseases are defined from the perspective of incidence and prevalence from the perspective of clinical practice. For off-list rare diseases, they can not only be applied to the accelerated review work specifications in the R&D stage, but also obtain the rights and interests of priority review in the marketing review stage.
Song Ruilin further suggested that in terms of disease diagnosis, it is recommended that unlisted rare diseases be included in the national rare disease diagnosis and treatment cooperation network, and change from voluntary inclusion to unified inclusion, so as to promote the registration of patients with rare diseases outside the catalog.