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核心数据速览207种中国罕见病目录病种100+种医保覆盖用药35款2025年获批新药已上市罕见病药品全景根据最新权威数据，中国已构建起覆盖207种罕见病的药品保障体系。截至2025年底，共有106种罕见病治疗药物获批上市，其中超过100种已纳入国家医保目录，实现了从"天价药"到"可负担"的历史性突破。重点治疗领域药品清单疾病领域代表药品适应症医保状态血液系统凝血因子VIII/IX血友病A/B已纳入神经系统诺西那生钠脊髓性肌萎缩症(SMA)已纳入代谢性疾病伊米苷酶戈谢病已纳入遗传性疾病阿加糖酶α法布雷病已纳入肿瘤罕见病司美替尼神经纤维瘤病已纳入2025年突破性新药2025年堪称中国罕见病药物的"丰收年"，全年共有35款新药获批上市，覆盖25种罕见疾病，其中多项创下"全球首发"纪录：🧬 基因治疗突破 波哌达可基注射液 - 中国首个血友病B基因疗法，一次性治疗有望长期缓解，价格仅为美国同类产品的1/10🇨🇳 国产创新 维拉苷酶β(戈芮宁) - 首个国产戈谢病酶替代疗法，打破进口垄断🚀 全球首发 盐酸匹米替尼 - 腱鞘巨细胞瘤治疗药物，中国批准时间早于欧美医保覆盖药品详解国家医保局通过动态调整机制，已将100余种罕见病用药纳入医保目录，按疾病领域可分为：四大重点领域药品清单🩸 血液系统血友病：凝血因子VIII(拜科奇)、IX(贝赋)地中海贫血：去铁酮(奥贝安可)、地拉罗司(恩瑞格)血小板减少症：艾曲泊帕(瑞弗兰)🧠 神经系统SMA：诺西那生钠( Spinraza)、利司扑兰(艾满欣)多发性硬化：特立氟胺(奥巴捷)、芬戈莫德(捷灵亚)渐冻症：利鲁唑(力如太)⚗️ 代谢性疾病苯丙酮尿症：沙丙蝶呤(科望)戈谢病：伊米苷酶(思而赞)、维拉苷酶β(戈芮宁)法布雷病：阿加糖酶β(法布赞)🫁 其他罕见病肺动脉高压：波生坦(全可利)、马昔腾坦(傲朴舒)囊性纤维化：伊伐卡托(科望)遗传性血管水肿：艾替班特(捷凝)研发管线与未来展望中国罕见病药物研发进入"快车道"，2024年登记临床试验达121项，其中基因治疗产品超过30款。2026年预计将有12款抗肿瘤罕见病新药获批。前沿疗法亮点🎯基因治疗 包括AAV载体疗法、CRISPR基因编辑等，针对血友病、视网膜色素变性等疾病已进入III期临床🔬细胞治疗 CAR-T细胞疗法在罕见肿瘤领域展现潜力，如治疗腱鞘巨细胞瘤的特异性靶点药物💊酶替代疗法 新一代长效酶制剂研发中，有望减少给药频率，提高患者依从性💡从"无药可医"到"有药可保"，中国罕见病治疗正经历历史性变革。 100+种医保药品、35款年度新药、121项在研管线，罕见病患者的春天正在到来。

Biotechnology startup Diagonal Therapeutics has added $125 million to its coffers, the company said Thursday, in a Series B round that will propel its first drug prospect into the clinic this year.Many antibody drugs are designed to block signaling pathways implicated in the progression of diseases, such as tumor growth in cancer or inflammation in immunological disorders. Diagonal is working on specialized kinds of multi-pronged clustering antibodies that bind to cellular receptors and force them together in a specific shape. These contortions result in different signals that may be able to switch on a pathway thats been disrupted by disease.The companys first attempt at the concept is DIAG723. With it, the company is homing in on two conditions: a rare genetic disease called hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension, a disorder that affects the lungs and heart. The company had originally sought to develop separate drugs for each disease, but found that a singular clustering antibody might impact both of them by reactivating a signaling complex called ALK1, said Alex Lugovskoy, the biotechs CEO.Given that we are addressing the foundational defect in these diseases, that gives us a lot of confidence that it would be a mechanism that could be beneficial in patients, Lugovskoy said.Hereditary hemorrhagic telangiectasia affects an estimated 150,000 people in the U.S. and Europe. The disease triggers the development of abnormal blood vessels that can rupture and lead to bleeds as well as chronic anemia. Treatments only help with symptoms, leaving room for a therapy that, like DIAG723, might be able to address the conditions root cause.Theres more competition in pulmonary arterial hypertension, for which Merck & Co.s Winrevairrecently approved and other options like Johnson & Johnsons Opsumit and Uptravi and United Therapeutics Tyvaso can alleviate symptoms. But Lugovskoy sees DIAG723 as a potentially complementary therapy to treatments like Winrevair.Behind DIAG723 in its pipeline are unnamed prospective treatments for iron overload and chronic kidney disease.Sanofi Ventures and Janus Henderson Investors co-led Diagonals Series B round, which involved more than a dozen investors in total. Those two firms, he said, were particularly attractive because of Sanofis vibrant hematology franchise, and Janus Hendersons level of understanding of a medicine development path when we go forward.Other participating firms included Deep Track Capital, Atlas Venture, RA Capital Management, Frazier Life Sciences and Viking Global Investors. The company has now raised more than $250 million since emerging from stealth in 2024. '