2025全球罕见病行业发展报告： 政策演进、市场趋势与领先企业布局 摩熵咨询 2026年1月 生命科学领域全球领先的数据系统与咨询服务提供商 摩熵数科 www.bcpmdata.com 2 1 罕见病行业概览 中、美、日、欧罕见病政策分析 3 全球五大热门研发罕见病概述 4 全球罕见病领域五大药物研发企业 中美日欧罕见病的定义 中美日欧罕见病影响人数 中国罕见病用药可及性对比 国内罕见病有药可用疾病列举 中美日欧罕见病管理格局：各国对罕见病的定义有差异，中国按照目录管理，已有207种疾病纳入罕见病目录 ü 中美日欧对罕见病的定义： • 中美日欧各国对于罕见病的定义并非是统一的医学概念，而是政策导向的结果。 美国以"患者人数"为核心，日本以"医保可负担性"为核心，欧盟强调"跨 国协同"，中国起步较晚仍处于"目录建设+登记体系完善"的阶段。 表1. 中美日欧对罕见病的定义标准及相关法律/政策依据 • 中国通过国家罕见病目录确定纳入疾病并由政府主导更新；美国没有统一 目录，而是通过 GARD公开数据库管理相关疾病和药物信息；日本以难病 法为基础建立难病名录，由学会和政府共同评估并纳入医保补助；欧盟未 设统一目录，但 ...

Core Viewpoint - The article discusses the treatment challenges and advancements in therapies for generalized myasthenia gravis (gMG), emphasizing the need for targeted therapies to address the limitations of traditional treatments [1][2][8]. Treatment Challenges - Traditional non-specific immunotherapy, including corticosteroids and non-steroidal immunosuppressants, has significant limitations, including adverse effects from long-term corticosteroid use and slow onset of action for other immunosuppressants [2][3]. - Approximately 10% to 20% of patients show limited response to conventional treatments, leading to a subset of patients developing "refractory gMG" [2][3]. - The heterogeneity of MG results in varied patient responses to medications, complicating the selection of effective treatment plans [2][3]. Advancements in Targeted Therapies - Targeted therapies for gMG are categorized into several classes, including FcRn antagonists, B-cell targeted therapies, and complement inhibitors [3][4]. - FcRn antagonists, such as efgartigimod, accelerate the degradation of pathogenic antibodies, reducing their levels [4]. - B-cell targeted therapies include monoclonal antibodies like rituximab and inebilizumab, which have shown efficacy in improving clinical symptoms and reducing corticosteroid dosage [4][6]. - Complement inhibitors, such as eculizumab and ravulizumab, block the complement pathway, preventing immune damage to neuromuscular junctions [4][6]. Clinical Evidence and Guidelines - Clinical studies indicate that treatments like eculizumab significantly improve MG-ADL and QMG scores within weeks, with a notable percentage of patients able to reduce corticosteroid use [5][6]. - The 2025 guidelines emphasize achieving "minimal symptom expression" as a treatment goal, highlighting the importance of long-term maintenance therapy [3][8]. - The CHAMPION MG OLE study demonstrated a 71.3% reduction in clinical deterioration events after 60 weeks of treatment with eculizumab [5][6]. Future Directions - The article advocates for a shift from traditional stepwise treatment to early targeted interventions and personalized treatment strategies for gMG patients [7][8]. - Emphasis is placed on the need for early intervention in high-activity gMG patients to prevent irreversible damage and improve quality of life [7][8]. - A comprehensive management model that includes rapid control of symptoms, long-term maintenance, and safe tapering of corticosteroids is essential for effective gMG treatment [7][8].

Core Points - The National Medical Products Administration has approved Weili Rui® for the treatment of adult neuromyelitis optica spectrum disorder (NMOSD) patients who are positive for aquaporin-4 (AQP4) antibodies, based on positive results from the CHAMPION-NMOSD Phase III clinical trial [1] - The trial demonstrated that the treatment group receiving Riluzumab did not experience any relapses during a median treatment duration of 73 weeks, and the results were consistent over a longer follow-up period of 170.3 weeks [1] - NMOSD is a rare, highly disabling autoimmune disease characterized by unpredictable relapses that can lead to severe neurological damage and permanent disability [1] Group 1 - The CHAMPION-NMOSD Phase III clinical trial used the placebo group from the PREVENT pivotal trial as an external control [1] - Riluzumab achieved the primary endpoint of time to first relapse as determined by an independent adjudication committee [1] - Most patients in the Riluzumab treatment group maintained stable or improved disability assessment scores during the follow-up period [1] Group 2 - Professor Quan Chao from Huashan Hospital emphasized the importance of preventing relapses during remission and quickly controlling symptoms during acute phases to minimize disability accumulation [2] - Riluzumab is a long-acting complement inhibitor that can precisely target complement pathways, providing sustained benefits for patients [2] - AstraZeneca's global senior vice president, Dr. He Jing, noted that this is the second indication approved for Riluzumab in China within six months, highlighting the drug's innovative value [2]