Rare diseases are a collective term for a group of conditions with extremely low prevalence rates and small total patient populations. Currently, there are more than 1,400 known rare diseases in China, with a patient population exceeding 20 million people. In May 2018 and September 2023, China successively issued the 'First Batch of Rare Disease Catalogue' and the 'Second Batch of Rare Disease Catalogue', which together include 207 rare diseases (121 in the first batch, 86 in the second batch). The establishment of the rare disease catalogue provides an important basis for the release of various policies related to rare diseases in China
With the successive introduction of relevant policies and the rapid development of the rare disease industry, the diagnosis, treatment, and protection work for the rare disease community have made unprecedented progress. In the just-concluded year 2023, the rare disease industry has shown many new developments and changes: research and development of rare disease drugs has become increasingly active, and the launch of new drugs has accelerated; medical insurance payments, public welfare and charitable efforts, etc., have jointly worked to reduce the economic burden on patients' medication; all parties are jointly planning to further improve the accessibility and affordability of rare disease medications for patients, and strive to build a comprehensive social support system to help rare disease patients overcome their illnesses
Relevant policies for rare diseases have become more complete
In 2023, China further increased its attention to rare diseases and issued a series of policies related to rare diseases
In September 2023, six departments including the National Health Commission, the Ministry of Science and Technology, the Ministry of Industry and Information Technology, and the National Medical Products Administration jointly issued the 'Second Batch of Rare Disease Catalogue', which includes 86 rare diseases. This is the new batch of rare disease catalogues issued by China after a five-year hiatus. So far, the number of rare disease diseases included in the rare disease catalogue has reached 207. Compared with the 'First Batch of Rare Disease Catalogue', the proportion of non-genetic rare diseases in the 'Second Batch of Rare Disease Catalogue' has increased, rising from 19% to 33%. At the same time, the proportion of rare tumors has also increased significantly, with a total of 24 rare tumors included, including melanoma, neuroblastoma, gastrointestinal pancreatic neuroendocrine tumors, etc.
Not only is the coverage of disease types more extensive, but the diseases in the 'Second Batch of Rare Disease Catalogue' are also distributed across more disciplines, including hematology, dermatology, pediatrics, endocrinology, etc. In terms of the diagnosis and treatment of rare diseases, more than 90% of the diseases in the 'Second Batch of Rare Disease Catalogue' can be accurately diagnosed through key indicators combined with clinical information; as of the end of 2023, there are 39 disease types included in the rare disease catalogue that have been approved for marketing treatment drugs in China. Combining with the analysis of the drug pipeline under research, it is basically possible to achieve full coverage of diagnosis and treatment for 86 disease types, which can more comprehensively guarantee the treatment of patients
The release of the rare disease catalogue has far-reaching significance in raising the attention and awareness of all sectors of society towards rare diseases, promoting rare disease research, diagnosis, and treatment, accelerating the development of related drugs and market access, and strengthening the medication protection of patients
The launch of rare disease drugs has accelerated
Rare disease patients in China have long faced the dilemma of 'having drugs overseas but not domestically'. To solve the urgent medication problems of the rare disease community, China has issued a series of policies related to rare diseases, encouraging the introduction, research, development, and production of rare disease drugs, and accelerating the registration review and approval process for rare disease drugs
The National Drug Registration Administration and the National Post-marketing Drug Surveillance Work Conference in 2023 emphasized that they will continue to deepen the reform of the review and approval system, focus on rare disease medications as a key area, accelerate the market launch speed of related drugs, innovate regulatory methods and means, and promote the high-quality development of the industry. The '2023 Annual Drug Review Report' released by the National Medical Products Administration shows that in 2023, a total of 45 rare disease medications (excluding 4 categories of chemical rare disease medications) were approved for marketing. Among them, 15 varieties were accelerated through the priority review and approval process for market launch, and 1 variety was conditionally approved for market launch. Among the rare disease drug manufacturers approved for market launch in 2023, in addition to multinational pharmaceutical companies, Chinese pharmaceutical companies have also gradually caught up with the research and development pace, with 18 approved drugs manufactured by Chinese companies. It is foreseeable that in the future, more Chinese pharmaceutical companies will deploy in the rare disease field, further promoting the launch of rare disease drugs and improving the accessibility of rare disease medications for patients. Statistics show that as of the end of 2023, 165 rare disease medications have been launched in China, covering 92 rare diseases
Imitating already launched rare disease medications is an important means to improve the accessibility of patients' medications. On December 26, 2023, the National Health Commission jointly issued the 'Third Batch of Encouraged Generic Drug Catalogue' with the Ministry of Industry and Information Technology, the National Intellectual Property Administration, the National Center for Disease Control and Prevention, and the National Medical Products Administration. The catalogue includes 39 varieties, covering 75 product specifications and 13 dosage forms, and covers the treatment medications of 12 fields such as anti-tumor drugs and immunomodulators, anti-infective medications, nervous system medications, radioactive diagnostic agents, cardiovascular system medications, etc. Among them, the medications related to the rare disease field include vemurafenib, amivantinib, clozapine, etc., which can be used to treat rare diseases such as melanoma, narcolepsy, and refractory epilepsy
Research and development of rare disease medications is active
Thanks to a series of policy measures encouraging the research, development, and launch of rare disease medications, especially the incentive of the priority review and approval policy, the number of rare disease medications in China that are in the market application stage has increased significantly in 2023, reaching 27 varieties, covering 22 rare diseases
Compared with 2022, the research and development coverage of rare disease medications in 2023 is wider and more numerous, and more drugs have entered phase III clinical trials. Relevant statistics show that as of the end of 2023, there were a total of 252 clinical trial pipelines in China in the clinical trial stage, among which 70 pipelines were in phase III clinical trials; the clinical trial pipelines in the clinical trial stage covered 40 rare diseases, among which the research and development pipelines for rare diseases such as idiopathic pulmonary fibrosis (5), multiple sclerosis (4), melanoma (4), and glioblastoma (4) were the most
More rare disease medications are included in basic medical insurance
Since its establishment in 2018, the National Healthcare Security Administration has continuously carried out dynamic adjustment and management of the medical insurance catalogue, with an adjustment every year in principle. The time for new drugs to be included in the medical insurance catalogue has been greatly shortened, ensuring the medication needs of the general public. Some rare disease medications are being included in the medical insurance catalogue through negotiations. In December 2023, the newly announced National Healthcare Security Administration Catalogue added 15 rare disease medications, covering 16 rare disease diseases, filling the medication security gaps for 10 disease types, such as iguratimod tartrate for adult patients with Gaucher's disease type I and stillosumab for Cystic Fibrosis
At present, 112 drugs for 64 rare diseases have been included in medical insurance, including 17 Class A drugs and 95 Class B drugs. After the relevant drugs are included in medical insurance, the economic burden on patients' medication is greatly reduced
Local legislation explores new models for medication security for rare diseases
In January 2023, the first session of the 14th Jiangsu Provincial People's Congress passed the 'Jiangsu Province Medical Security Regulations', which came into effect on June 1, 2023, confirming the rare disease medication security mechanism in Jiangsu Province and detailing the operation form of this mechanism
Jiangsu Province has broken through the common practice of local exploration in the past where a single department issued security policies to solve the medication problems of rare disease patients through local legislation, ensuring the continuity and sustainability of policies
Public welfare and charitable efforts help solve medication security problems
Improving the security of rare disease medications requires the coordinated efforts of the government and society
In recent years, public welfare and charitable forces in China have made a series of efforts for the security of rare disease medications: whether it is single-disease patient organizations or foundations, they are all trying to reduce the economic burden on patients through carrying out assistance projects for patients
Taking the Pain Challenge Foundation as an example, combining more than 10 years of service experience with rare disease groups, it deeply analyzes the actual needs of rare disease groups and initiated a national rare disease private public welfare assistance project - the Rare Disease Medical Assistance Project in February 2018 with the China Social Assistance Foundation and other parties, hoping to use this as a fulcrum to build a 'multi-party participation' and 'multi-party co-payment' platform for rare diseases, leveraging more resources to invest in the medical security work of rare diseases. As of the end of 2023, the Rare Disease Medical Assistance Project of the Pain Challenge Foundation has assisted more than 3,268 patients, with a cumulative donation of over 37 million yuan, covering 30 provinces (autonomous regions, municipalities directly under the Central Government) across the country, involving 88 disease types
The rare disease field has become a hot investment track globally
As is well known, the expiration of product patents will bring revenue losses to pharmaceutical companies. To better make up for losses and maintain growth, large multinational pharmaceutical companies need to expand their product pipelines. In addition to accelerating innovation within the company, they also seek external mergers and acquisitions or research and development cooperation
In 2023, large multinational pharmaceutical companies were active in transactions in the rare disease field
'Lack of drugs' and 'insufficient security' remain the biggest challenges
'No cure' remains the primary dilemma faced by rare disease patients
Despite the favorable policies in recent years, more and more rare disease new drugs have been approved for marketing in China, and both the number of related generic drugs and the number of drugs under research have shown geometric growth. However, there are still some rare disease patients in the dilemma of 'no cure'
Since November 2018, the National Medical Products Administration has successively issued three batches of lists of urgently needed overseas new drugs for clinical use, and the varieties included in the list can directly submit market launch applications. The Drug Evaluation Center of the National Medical Products Administration has established a special channel to accelerate the review. The three batches of urgently needed overseas new drugs for clinical use total 73 varieties, among which more than half are rare disease treatment drugs. Generally speaking, 165 rare disease medications have been launched in China, covering 92 rare diseases. However, compared with the 207 rare diseases included in the first and second batches of the rare disease catalogue, there are still more than 100 rare diseases 'without cure'
Self-paid drugs 'difficult to afford' are a dilemma for rare disease groups during the treatment process
With more and more rare disease new drugs being approved for marketing in China, more and more rare disease patients have obtained treatment opportunities. However, 53 of the 50 rare diseases covered by the first and second batches of the rare disease catalogue have not been included in medical insurance. Among them, all the treatment drugs for 27 rare diseases (a total of 25) have not been included in medical insurance. The annual treatment costs of 18 drugs in China are as high as hundreds of thousands to millions of yuan, making it difficult for patient families to afford
The treatment drugs have been included in national medical insurance, but clinical accessibility faces challenges
The rare disease new drugs included in medical insurance still face certain clinical accessibility challenges. Currently, there are significant differences in the implementation of local security for rare disease drugs included in the medical insurance catalogue. For example, the security ceilings in different regions are inconsistent. In some places, the medical insurance ceiling cannot guarantee that rare disease patients can continue to take medications, making the security form a mere shell; or due to problems such as the total number of drug procurement and the control of drug proportion and medical insurance total amount, the procurement cost is high but the 'clinical demand is small', posing a greater challenge to hospital pharmacy management. This results in drugs included in the medical insurance catalogue being unable to be purchased in hospitals, and the 'dual-channel' (referring to opening a second channel outside the hospital, that is, patients can buy drugs at designated medical insurance pharmacies with a hospital prescription. The drug cost is not settled through the hospital but directly through the pharmacy with the medical insurance fund) has not been fully opened, and patients still need to pay for drugs out of their own pockets
In addition, many rare disease patients do not need hospitalization treatment, while current local medical insurance reimbursement policies stipulate that some drugs can only be reimbursed after hospitalization. For example, patients with primary immunoglobulin deficiency in many regions cannot reimburse the cost of intravenous human immunoglobulin in outpatient clinics, resulting in patients having to be hospitalized for medication to achieve medical insurance reimbursement
From the perspective of meeting the actual needs of patients, at present, China's rare disease treatment and medication security still face many challenges. In recent years, the policy support of the Chinese government and the development of the pharmaceutical industry have played an increasingly significant role in solving the shortage of treatment drugs in the rare disease field. More and more rare disease medications have been approved for marketing, greatly improving the accessibility of rare disease patients in China
With the continuous improvement of policies, the continuous development of medicine, and the continuous maturity of the market, more and more rare disease patients can receive diagnosis and treatment in a timely manner. At the same time, more and more rare disease drugs will be launched, and the rare disease field will receive more social attention
The efforts made by all parties in the rare disease field in 2023 will become more prominent over time. Eventually, these new trends and changes can not only respond to the treatment needs of rare disease groups but also better meet the multi-level needs of the patient group throughout their life cycle, enabling patients to obtain a more dignified and quality life
*This article was published in China Medical News on February 28, 2024
