On February 27, 2026, on the occasion of the nineteenth International Rare Diseases Day, the Beijing Pain Challenge Public Welfare Foundation, in collaboration with Frost & Sullivan (hereinafter referred to as 'Frost & Sullivan'), held an online press conference for the '2026 Rare Diseases Industry Trend Observation Report'. This is the fifth annual trend observation report on the rare diseases field released jointly by both parties. The report systematically reviews the key changes in China's rare diseases field from the 'policy-building phase' to the 'system deepening phase' in 2025, and releases six latest field lists to provide a panoramic presentation of rare disease governance.
Academician Zhang Xue of the Chinese Academy of Engineering attended the press conference and delivered an opening speech. As a medical worker and researcher who has long been concerned about rare diseases, Academician Zhang believes that the progress over the past decade is the result of the synchronous resonance of policies, medicine, industry, and social forces. In the latest report, he has seen structural progress in diagnosis and treatment efficiency, as well as profound changes in research and development and support. Looking ahead, Academician Zhang looks forward to working with all parties not only to 'see' but also to 'reach'. He calls for accelerating the formulation of programmatic laws on rare diseases and improving guidelines for patient participation in drug research and development; he wishes that the cause of rare diseases will move towards a broader future through the efforts of all parties.
PART.01 Heavyweight Sharing: A Detailed Explanation of the Report Highlights
The meeting was chaired by Ma Tao, Secretary-General of the Beijing Frost & Sullivan Public Welfare Foundation for Chronic Illnesses. Guo Jinchuan, Director of Information Research at the Beijing Frost & Sullivan Public Welfare Foundation for Chronic Illnesses, and Wang Peng, Consulting Director at the China Healthcare Business Unit of Frost & Sullivan, interpreted the report from the perspectives of policy and industry progress.
Guo Jinchuan, Director of Information Research at the Rare Disease Challenge Foundation, systematically reviewed the new progress in the field of rare diseases by 2025 from the perspectives of policies, diagnosis and treatment, protection, and comprehensive support systems. Guo pointed out that by 2025, China's rare disease policy had achieved a comprehensive upgrade from system improvement, technical standardization, payment expansion to innovation acceleration. Eleven laws were introduced, further expanding the diagnosis and treatment work of rare diseases to grassroots levels; AI technology has gradually been embedded into the rare disease diagnosis and treatment process. The use of tools such as "DeepRare" intelligent doctors and Peking Union Medical College's "Taichu" has promoted the shift from passive diagnosis to active screening for rare diseases; the "Dual Catalogue Era" has arrived, further enriching the connotation of China's multi-level protection for rare diseases; domestic special medical foods for rare diseases have also achieved a "zero breakthrough" from scratch. Looking ahead, establishing a comprehensive support system for rare diseases requires continuous efforts in six aspects: institutional design, diagnosis and treatment services, innovative research and development, payment protection, supply protection, and public awareness. All parties should work together to promote a new chapter in China's rare disease cause.
Wang Peng, consulting director of Frost & Sullivan's Healthcare Business Unit in China, interpreted the report from the perspective of the development of the rare disease industry. Wang Peng stated that overall, the success rate of rare disease drug research and development is close to 17%, with significant social benefits and cross-border application value. Taking 'Humira' as an example, it has been approved for multiple orphan drug designations and its global sales exceeded $4 billion in 2025. With favorable policies, the market launch of imported drugs has accelerated, and domestic independent research pipelines are also advancing rapidly. In 2025, 48 rare disease drugs were approved throughout China, and there are already over 300 ongoing rare disease research pipelines in China, with more than 30% entering phase III clinical trials, covering multiple diseases such as hemophilia and myasthenia gravis. Breakthroughs have been made in innovative therapies represented by gene therapy, and AI technology is deeply empowering drug target screening and clinical auxiliary diagnosis. Frost & Sullivan has jointly released industry trend reports with the Pain Relief Challenge Foundation for five consecutive years and will continue to support the development of the rare disease field.
PART.02 Six Major Lists, A Comprehensive Inventory of the Latest Rare Diseases
The '2026 Rare Diseases Industry Trend Observation Report' not only reviews the systematic breakthroughs made by China's rare diseases field in diagnosis and treatment, payment, drug research and development over the past year, but also for the first time releases six new lists with high practical guidance value:
A comprehensive list of recent rare disease-related policies introduced by China in 2025;
China's full list of rare disease treatment drugs that are available on the market;
List of rare disease drugs not covered by medical insurance and with high costs;
The list of overseas special drugs for which domestic rare disease patients can use them first is available for trial;
A list of rare disease gene therapy research pipelines in China;
List of pharmaceutical transactions in the rare disease field for 2025.
These six lists are compiled based on official data from the National Medical Products Administration, National Healthcare Security Administration, and industry research, aiming to provide transparent and accurate information support and reference for policymakers, medical institutions, pharmaceutical companies, and patient families.
PART.03 Multiple significant advancements, presenting a systematic transformation
The '2026 Rare Diseases Industry Trend Observation Report' shows that in 2025, the governance of rare diseases in China is undergoing a profound systemic transformation, with breakthroughs in various major areas. The report summarizes several significant advancements in 2025 from dimensions such as diagnosis and treatment, payment, research and development, and social support. Among these, the most noteworthy developments are:
● Systematic progress has been made in the construction of the diagnosis and treatment system
The National Health Commission issued the "Diagnosis and Treatment Guidelines for 86 Rare Diseases (2025 Edition)"; in conjunction with multiple departments, it released the "Action Plan for the 'Pediatric and Mental Health Services Year' (2025-2027)", covering rare diseases in children; it promoted further optimization of the diagnosis and treatment collaboration network, accelerating the implementation of specialized centers for rare diseases and multidisciplinary diagnosis and treatment (MDT) clinics in many places across the country. The number of hospitals on the National Rare Disease Diagnosis and Treatment Collaboration Network increased to 419, with the average diagnosis time shortened from 4 years to 4 weeks. The "National Medical Quality and Safety Improvement Goals for 2025" included rare diseases for the first time as a key area of annual medical quality improvement.
● A milestone breakthrough has been made in the field of rare disease AI in China
Artificial intelligence is moving from single-point breakthroughs to full-process assistance. Rare disease large models such as 'Xiehe & Taichu' from Peking Union Medical College Hospital and 'Nezha & Lingtong' from Tongji Hospital have been successively applied in clinical practice. The 'DeepRare' system jointly developed by the Shanghai Xinhua team and Shanghai Jiao Tong University has been registered for use in over 600 institutions worldwide, significantly shortening the identification cycle of difficult cases.
● With the "Dual Directory" enabled, a multi-level payment structure is officially taking shape.
By the end of 2025, 140 drugs for 71 rare diseases have been included in the medical insurance catalog. In December 2025, the National Healthcare Security Administration and the Ministry of Human Resources and Social Security released the 'Dual Catalogue' consisting of the 'Medical Insurance Catalogue + Commercial Insurance Innovative Drug Catalogue', marking the official start of a dual-track era of 'basic medical insurance + supplementary commercial insurance'. This will complement and connect the medical insurance catalogue with the commercial insurance innovative drug catalogue, helping to further enhance the accessibility of high-value drugs for rare diseases. At the same time, the 'Dual Catalogue' optimizes and upgrades China's multi-level medical security system of '1+3+N'.
● Major breakthroughs have also been made in the supervision system for special medical foods
The State Administration for Market Regulation and the National Health Commission have successively issued the 'Guidelines for the Registration of Special Medical Purpose Formulas for Amino Acid Metabolic Disorders' and the new version of the 'General Rules for Special Medical Purpose Formulas' (GB 29922-2025), establishing a clear standardized pathway for key treatment methods for patients with rare metabolic diseases such as phenylketonuria, and breaking through the previous bottleneck of 'difficulty in compliance' with products.
● In the drug R&D, review and approval domain, local innovation forces are accelerating their rise
Data released by the Center for Drug Evaluation (CDE) of the National Medical Products Administration (NMPA) show that in 2025, 48 drugs were approved in China for rare diseases, covering more than 20 types of rare diseases. This has brought the first targeted treatment drugs for many rare diseases, solving the problem of 'no available drugs' for these patients. Among them, 17 drugs are produced by Chinese enterprises. The new regulations in 2025 include rare disease innovative drugs in the '30-day pathway' for clinical trials, significantly shortening the process of clinical initiation and marketing approval.
● Social forces and technology platforms continue to make up for each other's shortcomings
In terms of platforms, companies such as Tencent, JD.com, Alibaba, and ByteDance leverage their platform advantages to play a supplementary role in diagnostic support, drug accessibility, patient services, and more. In terms of social forces, charitable aid forms a risk buffer layer outside the formal system, becoming an important supplement to the multi-level payment system. Taking the rare disease medical aid project initiated by the Beijing Pain Challenge Public Welfare Foundation as an example, as of the end of January 2026, it has directly assisted 6,037 individuals in total, disbursed aid funds exceeding 61.79 million yuan, covering 131 rare diseases.
PART.04 Multi-party Discussion on the Future of Rare Diseases
The press conference was held online at 14:00 on February 27th. The agenda was rich, including not only opening remarks and report interpretations but also two thematic discussions: patient observation and industry observation.
During the patient observation session, Zou Yang, head of the Communication Department at the Bubble Home Neurofibromatosis Care Center, Chen Xin, head of the Cortisol increase complications Alliance, Wang Lixin, head of the Tianjin You'ai Rare Disease Care Service Center, and Zhou Yingchun, initiator of the Shanghai Debo Butterfly Baby Care Center, as representatives of patient organizations, shared their real experiences and urgent needs regarding aspects such as drug accessibility, technological empowerment, innovative drug research and development, daily care, and payment security with Wang Yiu, president of the Pain Challenge Foundation.
Wang Yike, President of the Rare Disease Challenge Foundation, presided over this session and made a summary: 'For patients with rare diseases, compliant, legal, accessible, affordable, and sustainable daily medication is a common expectation. This is a very difficult path, and patient organizations play a very important role in promoting it.'
In the industry observation session, moderated by Zhang Hongliang, an observer of the healthcare industry and a senior media professional. Kang Qi, Director of the Health Management Research Office at the Health Policy Research Department of the Shanghai Health and Development Research Center; Fan Jing, General Manager of JD Health's Digital Marketing Department; Yu Lei, Head of Rare Diseases and Hematology Business at Sanofi (China); Yuan Weijun, Secretary of the Board of Directors of Shanghai Langxin Biotechnology Co., Ltd., discussed in depth the profound insights of representatives from policy departments, internet platforms, multinational pharmaceutical companies, and local innovative pharmaceutical companies into the development of China's rare disease industry. The discussion included both a review of past experiences and forward-looking thinking based on current circumstances.
At the end of the session, Zhang Hongliang stated: 'The most important thing for the rare disease community is to be seen. Behind being seen lies the patient needs that cannot be ignored. We have deeply realized that the development of the rare disease industry requires coordinated efforts from various sectors of society, including policies, enterprises, and public welfare institutions. Only when everyone moves forward together can the rare disease community truly be seen.'
As shown in the '2026 Rare Diseases Industry Trend Observation Report', China's rare diseases field in 2025 is gradually building a comprehensive governance system that covers the entire life cycle of patients through cross-departmental collaboration and multi-party coordination, laying a solid institutional foundation for the sustainable development of rare disease protection.
From marginal existence to national agenda, this annual observation document captures the solid footsteps of this historic leap.
