Core Viewpoint - The article highlights the significant challenges and advancements in the rare disease sector in China, emphasizing the need for a comprehensive healthcare system to support diagnosis, treatment, and patient care [1][2][3]. Group 1: Current State of Rare Diseases in China - Over 20 million rare disease patients exist in China, with only about 5% of known rare diseases having effective treatments [1] - The average diagnosis time for rare diseases is 4.26 years, with 42% of patients experiencing misdiagnosis [1] - The burden of rare diseases is significantly higher than that of common diseases, with over 35% of patients facing poverty due to illness [1][2] Group 2: Policy and Systemic Changes - By the end of 2025, 71 rare diseases with 140 drugs will be included in the medical insurance directory, marking the beginning of a dual-track system of basic medical insurance and commercial insurance [2] - The introduction of the "dual directory" aims to enhance the accessibility of high-value rare disease medications [2] - The National Health Commission has published guidelines for 86 rare diseases, and the average diagnosis time has been reduced from 4 years to 4 weeks [5] Group 3: Challenges in Diagnosis and Treatment - There are significant barriers in research innovation, clinical diagnosis, drug supply, and insurance coverage, which hinder the development of the rare disease sector [3][4] - A lack of understanding of the patient base and insufficient funding for systematic research contribute to many patients remaining undiagnosed [3] - The current medical training for clinicians regarding rare diseases is inadequate, leading to hesitance in prescribing necessary medications [4][5] Group 4: Collaborative Efforts and Future Outlook - The approval of 48 new drugs for rare diseases in 2025 indicates a growing focus on innovative treatments, with 17 of these drugs produced by Chinese companies [6][8] - A national rare disease special fund is proposed to address gaps in patient care and incentivize innovation in drug development [7] - The integration of advanced technologies in drug development is expected to lead to a significant increase in the number of new treatments for rare diseases [8][9]

Core Viewpoint - The establishment of a national rare disease special fund is essential to address the payment challenges associated with rare disease medications, as highlighted by the increasing number of drugs included in the medical insurance catalog but facing high costs that limit accessibility [1][2]. Group 1: Current Situation and Challenges - The Chinese government has shown increasing attention to rare diseases, with the introduction of the first and second batches of rare disease catalogs in 2018 and 2023, respectively [1]. - Despite the growing number of rare disease medications approved for inclusion in medical insurance, high-cost drugs remain difficult to incorporate into the catalog, leading to a growing contradiction between the availability of drugs and payment guarantees [1][2]. Group 2: Local Initiatives and Their Impact - Zhejiang Province established a rare disease medication guarantee special fund in December 2019, serving as a model for other regions and introducing a personal payment cap to alleviate patient burdens [2]. - Jiangsu Province has proposed a clear mechanism for rare disease medication guarantees, emphasizing a multi-channel funding approach involving government, market entities, and charitable organizations [2]. Group 3: Proposed Solutions and Benefits - The establishment of a national rare disease special fund could enhance the fairness and efficiency of medical insurance coverage for rare diseases and innovative drugs, ensuring that urgently needed foreign drugs reach domestic patients [3]. - A special fund would diversify funding sources and engage social resources in supporting rare disease medication, thus not relying solely on existing medical insurance funding models [3]. - Increasing public awareness of rare diseases and supporting local innovation in drug development are additional benefits of establishing a special fund [3].