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 ...

在试验中，与卡铂联合紫杉醇治疗相比，度伐利尤单抗联合卡铂和紫杉醇治疗，随后进行度伐利尤单抗 单药维持治疗可使dMMR子宫内膜癌患者的病情进展或死亡风险降低58%，度伐利尤单抗组的中位无疾 病进展生存期(PFS)尚未达到，对照组的中位PFS为7.0个月。 1月22日，阿斯利康(AZN.US)宣布，英飞凡(英文商品名：IMFINZI，通用名：度伐利尤单抗)已获中国 国家药品监督管理局(NMPA)批准，与卡铂和紫杉醇联合用于错配修复缺陷(dMMR)的原发晚期或复发 性子宫内膜癌成人患者的一线治疗，随后以本品单药维持治疗。 安全性方面，度伐利尤单抗联合化疗方案的总体安全性和耐受性良好，并且与此前临床试验结果总体一 致，没有出现新的安全信号。 度伐利尤单抗是一种人源化的PD-L1单克隆抗体，可与PD-L1蛋白结合，能够阻断PD-L1与PD-1和CD80 蛋白的结合，从而阻断肿瘤免疫逃逸并恢复被抑制的免疫反应。截至目前该药已在美国获批10项适应 症，在欧盟获批11项适应症，在国内获批7项。 此次度伐利尤单抗在中国获批是基于DUO-E3期试验中根据MMR状态预设的亚组分析结果。DUO-E试 验(GOG3041/ENGOT- ...

公告显示，公司原料药(奥拉帕利)相关车间及生产线通过药品GMP符合性检查，原料药(胞磷胆碱)的生 产线也符合相关规范要求。 拓新药业表示，新乡制药本次原料药(奥拉帕利)(抗肿瘤药)、原料药(胞磷胆碱)相关车间及生产线通过药 品GMP符合性检查，标志着公司相应生产设施与管理体系满足药品生产质量管理规范要求。原料药(胞 磷胆碱)即可上市销售，原料药(奥拉帕利)由于涉及地址变更，待通过国家药品监督管理局备案后，即可 上市销售。本次通过药品GMP符合性检查，将助力公司持续保障产品质量稳定性与生产供应能力，更 好地满足相关药品的市场需求，将有力推动公司未来的业务拓展。(王珞) 1月20日晚，拓新药业（301089）发布公告称，公司全资子公司新乡制药股份有限公司(以下简称"新乡 制药")近日收到河南省药品监督管理局分别核发的两份《药品GMP符合性检查告知书》。 ...

拓新药业（301089）(301089.SZ)公告，公司全资子公司新乡制药股份有限公司(简称"新乡制药")近日收 到河南省药品监督管理局分别核发的两份《药品GMP符合性检查告知书》。新乡制药本次原料药(奥拉 帕利)(抗肿瘤药)、原料药(胞磷胆碱)相关车间及生产线通过药品GMP符合性检查，标志着公司相应生产 设施与管理体系满足药品生产质量管理规范要求。 ...

智通财经APP讯，拓新药业(301089.SZ)公告，公司全资子公司新乡制药股份有限公司(简称"新乡制药") 近日收到河南省药品监督管理局分别核发的两份《药品GMP符合性检查告知书》。新乡制药本次原料 药(奥拉帕利)(抗肿瘤药)、原料药(胞磷胆碱)相关车间及生产线通过药品GMP符合性检查，标志着公司 相应生产设施与管理体系满足药品生产质量管理规范要求。 ...

HNGMP26015、编号：豫GMP202503049）。新乡制药本次原料药（奥拉帕利）（抗肿瘤药）、原料药 （胞磷胆碱）相关车间及生产线通过药品GMP符合性检查，标志着公司相应生产设施与管理体系满足 药品生产质量管理规范要求。原料药（胞磷胆碱）即可上市销售，原料药（奥拉帕利）由于涉及地址变 更，待通过国家药品监督管理局备案后，即可上市销售。本次通过药品GMP符合性检查，将助力公司 持续保障产品质量稳定性与生产供应能力，更好地满足相关药品的市场需求，将有力推动公司未来的业 务拓展。 格隆汇1月20日丨拓新药业(301089.SZ)公布，全资子公司新乡制药股份有限公司（简称"新乡制药"）近 日收到河南省药品监督管理局分别核发的两份《药品GMP符合性检查告知书》（编号： ...

HNGMP26015、编号：豫GMP202503049）。新乡制药本次原料药（奥拉帕利）（抗肿瘤药）、原料药 （胞磷胆碱）相关车间及生产线通过药品GMP符合性检查，标志着公司相应生产设施与管理体系满足 药品生产质量管理规范要求。原料药（胞磷胆碱）即可上市销售，原料药（奥拉帕利）由于涉及地址变 更，待通过国家药品监督管理局备案后，即可上市销售。本次通过药品GMP符合性检查，将助力公司 持续保障产品质量稳定性与生产供应能力，更好地满足相关药品的市场需求，将有力推动公司未来的业 务拓展。 格隆汇1月20日丨拓新药业(301089.SZ)公布，全资子公司新乡制药股份有限公司（简称"新乡制药"）近 日收到河南省药品监督管理局分别核发的两份《药品GMP符合性检查告知书》（编号： ...

Core Insights - Synthetic lethality drugs specifically target cancer cells while sparing normal cells, showing remarkable potential in cancer treatment and gaining importance in precision oncology [1][4][13] - The global synthetic lethality drug market is projected to reach $4.3 billion in 2024 and $4.8 billion in 2025, with the Chinese market expected to grow from 3.6 billion yuan in 2024 to 4.6 billion yuan in 2025 [1][4][13] - PARP inhibitors, a successful example of synthetic lethality, have seen global sales reach $3.072 billion in 2024, with an expected increase to $3.4 billion in 2025 [1][4][13] Market Overview - The global synthetic lethality drug market is expected to grow significantly, with a forecasted size of $4.3 billion in 2024 and $4.8 billion in 2025 [4][13] - The Chinese synthetic lethality drug market is also on the rise, projected to reach 3.6 billion yuan in 2024 and 4.6 billion yuan in 2025 [4][13] PARP Inhibitors - The first PARP inhibitor, Olaparib, has become a blockbuster drug in oncology, achieving nearly 9.3% growth in sales after 10 years on the market [1][4][13] - Global sales of PARP inhibitors are expected to reach $3.072 billion in 2024 and $3.4 billion in 2025 [1][4][13] Industry Definition and Mechanism - Synthetic lethality refers to a situation where mutations in two non-lethal genes do not affect cell survival, but simultaneous mutations lead to cell death [3][7] - The concept of synthetic lethality has been recognized in cancer cells, allowing for targeted therapies that selectively eliminate cancer cells while protecting normal tissues [3][7] Policy and Industry Chain - The industry is supported by various national policies aimed at enhancing cancer precision treatment and synthetic lethality drug development, including guidelines and reform measures [3][9] - The industry chain includes upstream biological raw materials, midstream drug development, and downstream clinical applications in hospitals and research institutions [3][9] Competitive Landscape - Since the approval of Olaparib in 2014, several other PARP inhibitors have entered the market, including Niraparib, Rucaparib, and Talazoparib, expanding treatment options for cancer patients [5][15] - The competitive landscape is evolving, with major pharmaceutical companies exploring new synthetic lethality targets, indicating a growing interest in this therapeutic approach [5][15]

Core Viewpoint - Repare Therapeutics has announced an asset purchase agreement with Gilead Sciences to acquire the experimental cancer therapy RP-3467, with a total transaction value of up to $30 million [1] Group 1: Transaction Details - The agreement includes a maximum upfront payment of $25 million from Gilead to Repare, with an additional potential payment of up to $5 million upon completion of specific technology transfer-related matters [1] - This upfront payment is expected to impact Repare's net cash position upon the completion of the acquisition [1] Group 2: Impact on Stock Valuation - Following the announcement, the cash consideration per share for Repare in its previously agreed acquisition with XenoTherapeutics will increase to approximately $2.20, up from the prior offer of $1.82 per share [1] Group 3: Clinical Development - Repare is advancing the POLAR Phase I clinical trial for RP-3467, which evaluates the safety and pharmacokinetic characteristics of the candidate drug in combination with olaparib across various tumors [1] - Olaparib is an already marketed cancer drug co-commercialized by AstraZeneca and Merck, known by the brand name Lynparza [1]

Core Viewpoint - Repare Therapeutics has announced an asset purchase agreement with Gilead Sciences to acquire the experimental cancer therapy RP-3467, with a total transaction value of up to $30 million [1] Group 1: Transaction Details - The agreement includes a prepayment of up to $25 million from Gilead to Repare, with an additional potential payment of up to $5 million upon completion of specific technology transfer tasks [1] - This prepayment is expected to impact Repare's net cash position upon the completion of the acquisition [1] Group 2: Impact on Stock Valuation - Following the agreement, the cash consideration per share for Repare in its previously announced acquisition by XenoTherapeutics will increase to approximately $2.20, up from the initial offer of $1.82 per share [1] Group 3: Clinical Development - Repare is advancing the POLAR I phase clinical trial for RP-3467, which evaluates the safety and pharmacokinetic characteristics of the candidate drug in combination with olaparib across various tumors [1] - Olaparib is an already marketed cancer drug co-commercialized by AstraZeneca and Merck, known by the brand name Lynparza [1]