Press Conference on the 2025 Rare Disease Industry Trend Observation Report
On February 27, 2025, as the 18th International Rare Disease Day approached, the offline press conference of the "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 the 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 in the rare disease field 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 guarantee, diagnosis and treatment, special medical foods, drug research and development, investment and mergers and acquisitions, development prospects, etc. It comprehensively outlines the progress made in this field in 2024 and the industry challenges it faces. It also makes prospects for China's comprehensive rare disease service system, providing a panoramic overview of the industry for all sectors of society and hoping to benefit policy makers, advocates, practitioners from relevant institutions, patients and their families in the rare disease field.
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 of Frost & Sullivan and Chairman of Greater China, opened the press conference and delivered speeches.
Dr. Wang Xin stated that the cause of rare disease prevention and control requires persistent investment. The cooperation between Frost & Sullivan and the Pain Challenge Foundation has entered its fourth year and continues to contribute industry strength to the cause of rare disease prevention and control. In the future, Frost & Sullivan will continue to give full play to its global think tank advantages, work hand in hand with partners from all sides, and gather every glimmer into a galaxy that illuminates life.
At the press conference, Mr. Guo Jinchuan, Information Research Director of the Pain Challenge Foundation, first interpreted the Report from the perspective of policy development, pointing out seven new trends in the policy development of China's rare disease field in 2024, including: the country attaches increasing importance to rare disease issues, localities actively explore new legislation on rare diseases, promote patient-centered rare disease drug research and development strategies, the diagnosis and treatment level has been greatly improved, and artificial intelligence has begun to be gradually explored and applied in the field, promote the simultaneous use of overseas innovative drugs within China, and share new progress in the priority review and approval of special medical foods and national and local rare disease guarantees.
Ms. Li Qian, Executive Director of Greater China at Frost & Sullivan, interpreted the Report from the perspective of industrial development. In recent years, global rare disease drug research and development has shown a more diversified and innovative trend. On the one hand, multinational pharmaceutical companies have increased their investment in the rare disease field; on the other hand, governments and regulatory agencies in various countries have introduced policies to promote the acceleration of review channel construction. In 2024, with the advancement of a series of policies in China's rare disease treatment field, both innovative drugs and generic drugs, the number of rare disease drugs developed and launched by Chinese enterprises has been increasing. In addition, in 2024, about 210 rare disease drug pipelines in China are in clinical trial stage, nearly 38% of which are in the third phase of clinical trials. Covering more than 20 rare diseases, including generalized myasthenia gravis, Parkinson's disease (juvenile and early-onset), systemic sclerosis, idiopathic pulmonary fibrosis, multiple sclerosis, etc., drug research and development in the rare disease field has accelerated.
After the interpretation and sharing of the Report, Frost & Sullivan and the Pain Challenge Foundation jointly released the "2025 China Rare Disease Industry Trend Observation Report
At this press conference, with the theme of "How Government, Industry, Academia and Research Collaborate to Promote the Development of China's Rare Disease Cause", a roundtable dialogue was launched under the chairmanship of Mr. Guo Jinchuan. The roundtable dialogue was participated in by Cai Wei, member of the National Committee of the Chinese People's Political Consultative Conference, Director of the Shanghai Institute of Pediatrics, and Director of the Shanghai Rare Disease Diagnosis and Treatment Center; Hu Shanlian, 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, Associate Professor at the School of Public Health of Fudan University; Zhang Jing, Head of the Corporate Affairs and Market Access Department of Kaisi Pharmaceutical; and Yu Zhe, Head of the Public Welfare Operation of Marketing at JD Health.
Professor Cai Wei called on people to turn their attention to rare diseases into a regular practice, hoping that rare diseases can receive attention every day of the 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 has received an active 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 this year and launch the world's first low-protein chocolate, while simultaneously promoting the registration of PKU special medical formula powder; at the same time, they have jointly opened a one-hour in-depth diagnosis and treatment service of "experts + dietitians" with public welfare organizations, allowing patients to obtain an accurate plan for only 50 yuan; and affirmed the acceleration of drug and medical device applications in regional pilots such as Shanghai's "one matter, one discussion". Professor Cai Wei's goal is to achieve full domestic coverage in the field of special medical foods, with 1 - 3 products approved every year, enabling Chinese patients to be on par with international standards.
Professor Hu Shanlian, 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, opening up a new channel for innovative high-value drugs used in other disease areas such as tumor diseases and rare diseases. Through this channel, drug accessibility can be improved, and it is expected to further boost the benefits of rare disease drugs to more people.
Gong Xumin, Vice Chairman of the Social Committee of the 13th Jiangsu Provincial People's Congress, analyzed the national breakthrough path for rare disease guarantee with the "Yangtze River Delta Model": Jiangsu and Zhejiang have established special funds to cover 40% of high-value rare disease drugs within the list. After five years of practical verification, the economic feasibility of this area with a population of 150 million has been proven, breaking the dilemma of "having drugs but difficult to access". Gong Xumin and Hu called on the public and media to pay attention to the rare disease treatment field, focus on the core of institutional innovation, and help break through the national level guarantee for rare diseases in 2025.
Zhang Luying, Associate Professor at the School of Public Health of Fudan University, pointed out that in response to the sky-high payment problem faced by cell and gene therapies (such as single-shot cure for hemophilia), international experience needs to be drawn on to establish a long-term tracking system of real-world data to support efficacy evaluation, and a multi-party payment model with risk sharing (payment upon meeting standards, refund in case of ineffectiveness) needs to be designed; the country should take advantage of the opportunity of expanding the Class C list to promote the inclusion of inclusive insurance and special funds for rare diseases into new rare disease therapies. Referring to the path of gradual coverage of special medical foods since 2023, explore hierarchical payment to promote cutting-edge therapies from "technically feasible" to "accessible to patients".
Zhang Jing, Senior Corporate Affairs and Market Access Director at Kaisi China, said that enterprises are very concerned about product accessibility and affordability. In recent years, the registration and review approval of rare disease drugs have accelerated, and the accessibility of rare disease drugs has been effectively improved; on the other hand, after drugs enter medical insurance, their affordability is enhanced, but it still requires hospital listing to ensure patients' access to medications, which still requires the continuous improvement of the entire industry. Kaisi is committed to the research and development of innovative rare disease drugs. Currently, there are still 8 products that have not been introduced into China and are mainly used for skin rare diseases, endocrine and metabolic rare diseases, ophthalmic rare diseases, rare blood diseases and immune system diseases, as well as congenital metabolic defect diseases. Among them are many of the only treatment options for patients at present. Kaisi is actively cooperating with national drug registration management institutions and relevant pilot areas such as Hainan Boao, Beijing Tianzhu, and the Greater Bay Area, enabling approved foreign products to quickly enter China and further improving patients' access to medications.
Yu Zhe, Head of Public Welfare Operation of Marketing at JD Health, elaborated on the path for JD Health to build a rare disease service ecosystem: As a resource hub, the platform realizes cross-domain drug accessibility through online pharmacies (such as patients in Heilongjiang can remotely purchase special drugs in Hangzhou), breaking the geographical barrier of 3,000 kilometers; jointly donating special medical foods (such as special assistance for Crohn's disease and PKU children) with institutions such as the Pain Challenge Foundation, exploring a co-payment model of "enterprise - public welfare - platform"; connecting patients' medication needs and assistance; in 2024, it plans to migrate the online pharmacist management experience to the rare disease field, diverting home services to release medical resources. Yu Zhe emphasized that JD Health will continue to deepen the role of "linker", connecting pharmaceutical enterprise R & D, diagnosis and treatment resources with payment innovation, and building a full-cycle support network centered around the patient journey.
Wang Yigou, Founder and Vice Chairman of the Pain Challenge Foundation, interpreted the report "Guidelines for Patients' Participation in Rare Disease Drug Research and Development". Ms. Wang Yigou analyzed the necessity, feasibility, and urgency of patients' participation in rare disease drug research and development, and also pointed out the precautions for patients' participation in rare disease drug research and development. Currently, patients' participation in rare disease research and development is in a critical period from "group warming" to "professional development". Not crossing red lines, keeping the bottom line in mind, breaking through limitations, and pursuing high standards are the keys to professional development. The regulatory requirements and ethical guidelines that patients should pay attention to during participation in rare disease drug research and development, and when cooperating with relevant parties, should avoid conflicts of interest, be neutral, and comply with regulations. Based on the necessity of patients' participation in rare disease drug research and development, the Pain Challenge Foundation has released "Patient Participation in Rare Disease Drug Research and Development Guidelines 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 Disease Real-world Data Laboratory at the Shenzhen Research Office of the Chinese Language and Culture University, Zheng Yuan, Founder and Chairman of Chengdu Purple Shell Public Welfare Service Center, Yan Shangjun, Vice President of Business Development and New Product Development at Regica Health, jointly discussed the theme of "Reconstructing the Research Ecology, Rare Disease Patients' Participation in Drug Research and Development Model and Prospect" under the chairmanship of Wei Yunshu, Director of the Industry Development Department of the Pain Challenge Foundation.
Zhu Wei, Deputy Director of the Shanghai Clinical Research Ethics Committee, mentioned that patients are an important part in the process of rare disease drug research and development. It is necessary to promote rare disease research 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); emphasizing that patient organizations should use the bargaining power of case resources to force researchers to dynamically update risk terms, share results, and be vigilant against "treatment misunderstandings", and rationally evaluate risks in combination with inclusion criteria; at the same time, it is recommended that patient organizations jointly establish a training system with ethical experts to ultimately achieve multi-party collaborative cooperation based on the goal of improving and maintaining health.
Mao Ningying, Deputy Dean of the International Business School of Pharmacy at China Pharmaceutical University, said that whether it is domestic rare disease drug enterprises or foreign-funded enterprises, they all have dedicated departments and patient organizations for cooperation, actively exploring the strength of patient organizations through such processes. Enterprises have their own demands in the R & D process. After understanding their demands and legal norms, we can connect with them and then link patients to truly fully involve them in R & D.
As an innovative therapy company in the rare disease field, Dr. Yan Shangjun, on behalf of Regica Health, was invited to participate in this press conference and participate in the roundtable discussion of the meeting. Dr. Yan believes that China's biomedical R & D is shifting from "imitation and innovation" to originality. Originality includes four levels: discovery of pathogenic mechanisms, discovery of drug targets, discovery of intervention molecules, and definition of suitable patients. China's basic research in pharmaceutical R & D has made rapid progress, greatly promoting the discovery of pathogenic mechanisms and targets. The originality at these two levels is of great significance and often opens up a new drug field, diagnostic technology, and a batch of supporting drug delivery technologies, production and preparation technologies, etc. Dr. Yan took neurodegenerative diseases as an example. The traditional drug development idea of "single molecule target - intervention molecule" is facing many 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, forming abnormal aggregation of intracellular proteins. Abnormal aggregation is the key pathogenic association. The Regica team globally discovered natural degrading proteins in neurons for the first time and analyzed their mechanism. Based on this discovery, developing drugs faces the problem that there are no ready-made methods for drug development routes, drug screening, intervention molecule design, pharmacodynamic verification experiments, etc., and it is necessary to establish them by oneself. Fortunately, Regica has finally overcome these difficulties, and the project developed for amyotrophic lateral sclerosis has advanced to clinical Phase I. Dr. Yan also pointed out the importance of full-process communication with patients, must keep a sense of responsibility, be timely, objective, and transparent, and ensure the rights and interests of patients to the greatest extent.
Dong Dong, Head of the Rare Disease Real-world Data Laboratory at the Shenzhen Research Office of the Chinese Language and Culture University, called on reshaping the rare disease research ethics framework and building 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, break the misunderstanding of "hiding adverse reactions to ensure enrollment", and avoid a lose-lose situation between individual safety and data authenticity; for children, the informed consent rights of children over 8 years old must be strictly implemented, and a dual decision-making mechanism of "child's opinion + guardian's signature" must be established to prevent parents' "good-faith treatment" from ignoring the real demands of children and causing irreversible harm; researchers must simplify informed consent with tools such as plain language and videos to reduce the understanding threshold of patients; at the same time, they called on patients to abandon the "sacrificial participation" mentality, need to rationally evaluate risks and benefits, and timely feedback side effects with a responsible attitude to assist in the scientific evaluation of drugs. Dong Dong emphasized that by embedding full-time ethicists and optimizing communication tools, promote the joint construction of trust between medical research and development in "warm science", and truly achieve the balance between individual safety and scientific research value in rare disease treatment.
Zheng Yuan, Founder and Chairman 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 for the entire R & D cycle: Currently, most cooperation still remains at the stage of unidirectional push of clinical trial recruitment information. The inclusion criteria are complex, the informed consent form is long and difficult to understand, and patients are forced to compromise between "can't understand" and "give up rights"; while the practice of multinational pharmaceutical companies has proved that "patient-centered" can achieve deeper linkage - locking in demand priorities through global patient surveys before project establishment, measuring the opening method of medicine bottles and swallowing dimensions of tablets during the dosage form design stage, and even developing clinical trial simulation games to enable patients and researchers to understand the difficulties of the trial synchronously through virtual processes, breaking the "one-way education" barrier. Zheng Yuan emphasized that patient organizations should upgrade from "information transfer stations" to "R & D co-constructioners", embed demand insights in early R & D, use visualization tools to reduce the participation threshold, promote enterprises to establish regular mechanisms such as patient advisory committees, and ultimately achieve a paradigm transformation from "treating diseases" to "empowering" among pharmaceutical companies, researchers, and patients.
As the 18th International Rare Disease Day approaches, the offline press conference of the "2025 China Rare Disease Industry Trend Observation Report" jointly organized by Frost & Sullivan and the Pain Challenge Foundation gathered forces from government, industry, academia, research, medicine, and patients. It outlined a panoramic picture of the development of the rare disease cause from dimensions such as policy guarantee, diagnosis and treatment innovation, payment reform, ethical co-construction, service ecosystem, etc., pointing out the breakthrough direction at the key nodes in 2025. It is believed that with the attention and joint efforts of multiple forces in the rare disease field, more exciting chapters will be written in 2025.
