2025 Rare Diseases Industry Trend Observation Report Release Conference
On February 27, 2025, on the eve of the 18th International Rare Disease Day, the offline release conference of '2025 China Rare Disease Industry Trend Observation Report' (hereinafter referred to as the 'Report') jointly organized by Frost & Sullivan (Frost & Sullivan, abbreviated as 'Frost & Sullivan') and Beijing Pain Challenge Public Welfare Foundation (hereinafter referred to as the 'Pain Challenge Foundation') successfully concluded in Shanghai. This is also the fourth annual trend observation report on the rare disease sector jointly released by Frost & Sullivan in collaboration with the Pain Challenge Foundation.
The Report aims to review and sort out the new progress made in China's rare disease field in 2024 in terms of policy support, diagnosis and treatment, special medical foods, drug research and development, investment and mergers and acquisitions, development prospects, etc. It provides a comprehensive overview of the progress made in this field in 2024 and the industry challenges it faces, as well as prospects for China's comprehensive rare disease service system. It offers a panoramic industry overview for all sectors of society, hoping to benefit policymakers, advocates, practitioners from relevant institutions, patients and their families in the rare disease field.
Dr. Li Linkang, Executive Chairman of the China Rare Disease Alliance and Deputy Director of the Office of the National Rare Disease Diagnosis and Treatment Collaboration Network, Wang Yigou, Founder and Vice Chairman of the Pain Challenge Foundation, and Dr. Wang Xin, Global Partner at Frost & Sullivan and Chairman of Greater China, delivered opening remarks for the press conference.
Dr. Wang Xin stated that the cause of rare disease prevention and treatment requires persistent investment. The collaboration between Frost & Sullivan and the Foundation for Fighting Illnesses has entered its fourth year, continuously contributing industry expertise to the cause of rare disease prevention and treatment; in the future, Frost & Sullivan will continue to leverage its global think tank advantages, working hand in hand with partners from all sectors to gather every glimmer of light into a galaxy that illuminates life.
At the press conference, Mr. Guo Jinchuan, Director of Information Research at the Foundation for the Challenge of Illnesses, first interpreted the Report from the perspective of policy development, pointing out seven new trends in the policy development of rare diseases in China for 2024. These include: the state's increasing emphasis on rare disease issues, localities actively exploring new legislation for rare diseases, promoting patient-centered rare disease drug research strategies, significantly improving diagnosis and treatment levels, the gradual exploration and application of artificial intelligence within the field, promoting the simultaneous use of innovative drugs from abroad in China, and sharing new progress in the priority review and approval of special medical foods as well as national and local guarantees for rare diseases.
Ms. Li Qian, Executive Director of Frost & Sullivan Greater China, interpreted the Report from the perspective of industrial development. In recent years, the research and development of rare disease drugs globally has shown a more diversified and innovative trend. On one hand, multinational pharmaceutical companies have increased their investment in the field of rare diseases; on the other hand, governments and regulatory agencies around the world have introduced policies to accelerate the construction of review channels. In 2024, with the advancement of a series of policies in China's rare disease treatment field, both innovative and generic drugs are being developed and launched by Chinese companies in increasing numbers. In addition, in 2024, there are about 210 rare disease drug pipelines in clinical trials in China, nearly 38% of which are in phase III clinical trials. These cover more than 20 rare diseases, including generalized myasthenia gravis, Parkinson's disease (juvenile onset, early-onset), systemic sclerosis, idiopathic pulmonary fibrosis, multiple sclerosis, etc., accelerating the research and development of drugs in the field of rare diseases.
Following the report interpretation and sharing, Frost & Sullivan, in collaboration with the Rare Disease Foundation, jointly released the '2025 China Rare Disease Industry Trend Observation Report'.
At this press conference, themed 'How Government, Industry, academia, and research Collaborate to Promote the Development of Rare Diseases in China', a roundtable dialogue was initiated under the chairmanship of Mr. Guo Jinchuan. The roundtable was attended by Cai Wei, a member of the National Committee of the Chinese People's Political Consultative Conference, director of the Shanghai Pediatric Research Institute, and director of the Shanghai Children's Rare Diseases Diagnosis and Treatment Center; Hu Shanlian, a professor of health economics at the School of Public Health of Fudan University; Gong Xumin, vice-chairman of the Social Committee of the 13th Jiangsu Provincial People's Congress; Zhang Luying, an associate professor at the School of Public Health of Fudan University; Zhang Jing, head of the Corporate Affairs and Market Access Department at Kaisi Pharmaceutical; and Yu Zhe, head of public welfare operations for marketing and healthcare at JD Health.
Professor Cai Wei called on people to normalize their attention to rare diseases, hoping that rare diseases can receive attention every day, 365 days a year. Professor Cai Wei has made many contributions in the field of special medical foods, including proposing to change the import drug inspection of rare disease drugs from three batches to two batches, which received a positive response from the state, and promoting the accelerated and priority approval of special medical foods. His team has made breakthroughs in developing low-protein staple and complementary foods, with four products such as noodles and steamed buns already on the market, planning to add four more products within the year and launch the world's first low-protein chocolate, while advancing the registration of PKU special medical formula powder; at the same time, they have partnered with public welfare organizations to offer a one-hour in-depth diagnosis and treatment service of "experts + dietitians," where patients can receive precise plans for only 50 yuan; and they affirm that Shanghai's regional pilot projects such as "one case, one discussion" are accelerating the application of drugs and medical devices. Professor Cai Wei's goal is to achieve full coverage of domestic production in the field of special medical foods, with 1-3 products approved each year, bringing Chinese patients up to international standards.
Hu Shanlian, a professor of health economics at the School of Public Health of Fudan University, pointed out that China has recently launched the Class C list as an effective supplement to the basic medical insurance drug list. This has opened up a new channel for innovative high-value drugs used in other disease areas, including oncology and rare diseases. Through this channel, drug accessibility can be improved, and it is expected to further boost the benefits of drugs for rare diseases to a wider population.
Gong Xumin, Deputy Director of the Social Committee of the 13th Jiangsu Provincial People's Congress, analyzed the national breakthrough path for rare disease coverage under the 'Yangtze River Delta Model': Jiangsu and Zhejiang have established special funds to cover 40% of high-value rare disease drugs within their catalog. Five years of practice have verified the economic feasibility in a region with a population of 150 million, breaking through the dilemma of 'difficulty in accessing treatment'. Gong Xumin also called on the public and media to pay attention to the field of rare disease treatment, focusing on the core of institutional innovation to help achieve breakthroughs in national-level rare disease coverage by 2025.
Zhang Luying, an associate professor at the School of Public Health at Fudan University, pointed out that in response to the astronomical costs faced by cell gene therapies (such as single-shot cure for hemophilia), it is necessary to draw on international experience, establish a long-term tracking system of real-world data to support efficacy evaluation, and design a multi-party payment model with risk sharing (payment upon meeting standards, refund if ineffective); domestically, we should take advantage of the expansion of Category C medical insurance to promote inclusion of benefit-sharing insurance and special funds for rare diseases into new rare disease therapies. Following the path of gradual coverage of special medical foods since 2023, we should explore stratified payments to promote the transition of cutting-edge therapies from 'technically feasible' to 'accessible to patients'.
Kathy Zhang, Director of Corporate Affairs and Market Access for China at KPMG, stated that companies are very concerned about the accessibility and affordability of products. In recent years, the review and approval process for rare disease drug registration has accelerated, effectively improving the accessibility of drugs in this field; on the other hand, after drugs enter medical insurance, their affordability is enhanced. However, patients still need to be listed by hospitals to ensure their medication is available, which still requires continuous improvement through the efforts of the entire industry. Kathy is committed to the research and development of innovative rare disease drugs. Currently, there are 8 products that have not yet been introduced into China, mainly used for skin rare diseases, endocrine and metabolic rare diseases, ophthalmic rare diseases, rare blood diseases and immune system disorders, as well as congenital metabolic defects. Among them, there are many that are the only treatment options for patients at present. Kathy is actively cooperating with national drug registration authorities, as well as relevant pilot areas such as Boao in Hainan, Tianzhu in Beijing, and the Greater Bay Area, to enable approved foreign products to quickly enter China and further improve the accessibility of patients' medication.
Yu Zhe, the head of public welfare operations for JD Health's marketing, elaborated on the path JD Health is taking to build a rare disease service ecosystem: As a resource hub, the platform enables cross-domain drug accessibility through online pharmacies (for example, patients in Heilongjiang can purchase special drugs from Hangzhou remotely), breaking down geographical barriers of 3,000 kilometers; collaborates with institutions such as the Pain Challenge Foundation to donate targeted medical foods (such as special assistance for children with Crohn's disease and PKU), exploring an 'enterprise-public welfare-platform' co-payment model; connects patients' medication needs with aid; plans to migrate online pharmacist management experience to the rare disease field in 2024, diverting home services to release medical resources. Yu Zhe emphasized that JD Health will continue to deepen its role as a 'connector,' linking pharmaceutical R&D, diagnosis and treatment resources with payment innovation, and building a full-cycle support network centered around the patient journey.
Wang Yiqiu, founder and vice-chairman of the Pain Challenge Foundation, interpreted the report 'Guidelines for Patient Participation in the Development of Rare Diseases Drugs'. Ms. Wang analyzed the necessity, feasibility, and urgency of patient participation in the development of rare diseases drugs, and also pointed out the precautions for patient participation. Currently, patient participation in rare disease research and development is at a critical stage transitioning from 'group warming' to 'professional development'. Not crossing red lines, maintaining the bottom line, breaking through limitations, and pursuing high standards are key to professional development. The regulatory requirements and ethical guidelines that should be considered when patients participate in rare disease drug research and development include avoiding conflicts of interest, being neutral, and complying with regulations during cooperation with relevant parties. Based on the necessity of patient participation in rare disease drug research and development, the Pain Challenge Foundation has released 'Patient Participation in the Development of Rare Diseases Drugs 1.0'.
Zhu Wei, Deputy Director of the Shanghai Clinical Research Ethics Committee; Mao Ningying, Deputy Dean of the International Business School of Pharmacy at China Pharmaceutical University; Dong Dong, Head of the Rare Diseases Real-world Data Laboratory at the Shenzhen Research Office of The Chinese University of Hong Kong; Zheng Yan, Founder and President of Chengdu Purple Shell Public Welfare Service Center; and Yan Shangjun, Vice President of Ruijikang Business Development and New Product Development, discussed the theme of 'Reimagining the Research Ecosystem: Models and Prospects for Rare Disease Patients to Participate in Drug R&D' under the chairmanship of Wei Yunshu, Director of Industry Development at the Pain Challenge Foundation.
Zhu Wei, Deputy Director of the Shanghai Clinical Research Ethics Committee, mentioned that patients are an important part of the rare disease drug research and development process. It is necessary to promote the shift from 'passive informed consent' to full-cycle active participation, requiring the ethics committee to include patient representatives and simplify the informed consent process (such as video interpretation). It is emphasized that patient organizations should utilize their case resource negotiation power to force researchers to dynamically update risk clauses, share results, and be vigilant against 'treatment misunderstandings.' The committee also recommends that patient organizations collaborate with ethics experts to establish a training system, ultimately achieving multi-party collaborative cooperation based on the goal of improving and maintaining health.
Mao Ningying, Deputy Dean of the International Pharmaceutical Business School at China Pharmaceutical University, stated that whether it is domestic rare disease drug companies or foreign-funded enterprises, they all have dedicated departments and patient organizations for cooperation. Through this process, they actively tap into the strength of patient organizations. Companies have their own demands during the R&D process. After understanding their demands and legal norms, we can connect with them to link patients and enable them to truly participate fully in R&D.
As an innovative therapy company in the field of rare diseases, Dr. Yan Shangjun, on behalf of Regicang, was invited to participate in this press conference and engage in roundtable discussions. Dr. Yan believes that China's biomedical research and development is shifting from 'imitation and innovation' to original research. Original research includes four levels: the discovery of pathogenic mechanisms, drug targets, intervention molecules, and the definition of suitable patients. China's basic research in pharmaceutical development has made rapid progress, greatly promoting the discovery of pathogenic mechanisms and targets. The original research at these two levels is of great significance and often leads to the development of new drug fields, diagnostic technologies, and supporting drug delivery technologies, production and preparation technologies, etc. Dr. Yan used neurodegenerative diseases as an example. The traditional drug development approach of 'single molecule target-intervention molecule' faces numerous difficulties in treating diseases such as Alzheimer's disease and amyotrophic lateral sclerosis, and has made little progress so far. The new understanding is that the occurrence of degenerative diseases is a complex interplay of multiple factors, which leads to abnormal aggregation of intracellular proteins. Abnormal aggregation is a key pathogenic link. The Regicang team has globally discovered natural deubiquitin proteins in neurons for the first time and analyzed their mechanisms. The problem faced in developing drugs based on this discovery is that there are no ready-made methods for drug development routes, drug screening, intervention molecule design, pharmacodynamic verification experiments, etc., and these need to be established by oneself. Fortunately, Regicang has finally overcome these difficulties, and the project for amyotrophic lateral sclerosis has advanced to Phase I clinical trials. Dr. Yan also pointed out the importance of full-process communication with patients. It is necessary to maintain a sense of responsibility, be timely, objective, and transparent, and protect the rights and interests of patients to the greatest extent possible.
Dong Dong, the head of the Rare Diseases Real-world Data Laboratory at the Shenzhen Research Office of The Chinese University of Hong Kong, called for reshaping the ethical framework of rare disease research and constructing an equal dialogue mechanism between patients and researchers: informed consent should run through the entire research process, patients have the right to continuously question risks, breaking the misconception of "concealing adverse reactions to ensure enrollment," avoiding a loss of both individual safety and data authenticity; for pediatric patients, the informed consent rights of children over 8 years old must be strictly enforced, establishing a dual decision-making mechanism of "child's opinion + guardian's signature" to prevent irreversible harm caused by parents' "good-faith treatment" neglecting the child's true demands; researchers must simplify informed consent using tools such as plain language and videos to lower the threshold for patients' understanding; at the same time, he called on patients to abandon the mentality of "sacrificial participation," requiring rational assessment of risks and benefits, timely feedback of side effects with a responsible attitude, and contributing to the scientific evaluation of drugs. Dong Dong emphasized that by embedding full-time ethicists and optimizing communication tools, the medical research community can jointly build trust in "warm science," truly achieving a balance between individual safety and scientific research value in rare disease treatment.
Zheng Yan, founder and president of Chengdu Purple Shell Public Welfare Service Center, took scleroderma (systemic sclerosis) as an example, calling on pharmaceutical companies to break the "fragmented" patient participation model and build a co-construction ecosystem throughout the entire R&D cycle: Currently, most collaborations still remain at the stage of unidirectional push of clinical trial recruitment information. The inclusion and exclusion criteria are complex, informed consent forms are lengthy and difficult to understand, forcing patients to compromise between "not understanding" and "giving up their rights"; however, the practice of multinational pharmaceutical companies has proven that "patient-centered" approaches can achieve deeper linkages—prior to project initiation, by conducting global patient surveys to lock in priority needs; during the dosage form design phase, measuring the opening method of bottles and the swallowing size of tablets; and even developing clinical trial simulation games, allowing patients and researchers to understand the difficulties of trials through virtual processes, breaking down the barrier of "one-way education." Zheng Yan emphasized that patient organizations should upgrade from being "information hubs" to "R&D co-constructionists," embedding demand insights into early R&D, using visualization tools to lower participation barriers, promoting companies to establish regular mechanisms such as patient advisory committees, and ultimately achieving a paradigm shift from "treating diseases" to "empowering" among pharmaceutical companies, researchers, and patients.
As the 18th International Rare Diseases Day approaches, the offline release event of '2025 China Rare Diseases Industry Trend Observation Report', jointly organized by Frost & Sullivan and the Foundation for Fighting Illnesses, brought together forces from government, industry, academia, research, medical care, and patients. It outlined a panoramic view of the development of the rare diseases cause from dimensions such as policy support, diagnosis and treatment innovation, payment reform, ethical co-construction, and service ecosystem, pointing out breakthrough directions for key milestones in 2025. It is believed that with the attention and joint efforts of multiple parties, the field of rare diseases will compose an even more passionate symphony in 2025.
