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 ...

1月23日，美国临床试验收录网站显示，百时美施贵宝（BMS）就PD-L1/VEGF-A双抗Pumitamig启动了两项新的III期临床试验（ROSETTA Lung-201和 ROSETTA Lung-202）。 Pumitamig最初由普米斯生物发现，该公司在2023年11月将该药物在中国以外的全球开发、生产与商业化权益授予BioNTech。一年后，普米斯生物被 BioNTech以9.5亿美元的总金额并购。2025年6月，BMS豪掷111亿美元从BioNTech手中获得Pumitamig的全球合作开发与商业化权益。 ROSETTA Lung-201拟纳入850例在接受基于铂类化疗的同步放化疗方案治疗后未出现疾病进展的不可切除的III期非小细胞肺癌（NSCLC）患者，旨在评 估Pumitamig对比度伐利尤单抗作为后续治疗方案的疗效和安全性。研究的主要终点是无进展生存期（PFS）。 ROSETTA Lung-202拟纳入750例既往未接受过治疗且PD-L1表达≥50%的晚期NSCLC患者，旨在评估Pumitamig对比帕博利珠单抗作为一线治疗的疗效和安 全性。研究的主要终点是PFS和总生存期（OS）。 | 双 ...

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- ...

Group 1 - CSF-1R highly selective small molecule Pimitinib has been approved for the treatment of symptomatic adult patients with tenosynovial giant cell tumor (TGCT) that may lead to functional limitations or serious complications after surgical resection [1] - Pimitinib is the company's first self-developed innovative drug product, demonstrating good efficacy and safety [1] - The MANEUVER III phase study showed an overall response rate (ORR) of 54.0% at 25 weeks for patients treated with Pimitinib, increasing to 76.2% at a median follow-up of 14.3 months [1] Group 2 - Patients who switched to Pimitinib from the control group also experienced clinical benefits, with an ORR of 64.5% at a median follow-up of 8.5 months [2] - Pimitinib has a higher ORR compared to existing drugs like Pexidartinib and Vimseltinib, which have ORRs of 39% and 40% respectively, and Pimitinib does not carry the risk of cholestatic liver toxicity [2] - The global commercialization process for Pimitinib is accelerating, with approvals in China and recognition from the FDA and EMA for breakthrough therapy designation and priority medicine status [2] Group 3 - ABSK043 is designed for combination therapy and is currently undergoing three phase II clinical trials in conjunction with other treatments [3] - The most common driver gene mutation in non-small cell lung cancer (NSCLC) is the EGFR mutation, and third-generation EGFR-TKIs have become the standard first-line treatment [3] - Previous studies indicate that the efficacy of third-generation EGFR-TKIs is inferior in patients with high PD-L1 expression compared to those with low or negative expression [3] Group 4 - In a phase II clinical trial of ABSK043 combined with Vemurafenib, the disease control rate (DCR) reached 71% and the ORR was 25% among patients with EGFR mutations and positive PD-L1 [4] - The company has a robust pipeline with over 10 clinical-stage oncology products, including the Pan-KRAS inhibitor ABSK211 expected to enter clinical stages by 2026 [4] - Revenue forecasts for the company are projected at 630 million, 685 million, and 637 million yuan for 2025-2027, with net profits expected to be 45 million, 70 million, and 102 million yuan respectively [4]

Investment Rating - The investment rating for the industry is "Positive" and the rating has been maintained [2] Core Views - The pharmaceutical and biotechnology industry index experienced a decline of 4.40%, ranking 23rd among 31 primary industries, underperforming the CSI 300 index which fell by 2.19% [6][18] - The valuation of the pharmaceutical and biotechnology industry as of November 28, 2025, is a PE (TTM overall method, excluding negative values) of 29.46x, down from 30.89x in the previous period, indicating a downward trend and below the average [22] - The report highlights potential beneficiaries from the upcoming ASH data, particularly in blood diseases and companies with solid grassroots channels, as well as those with differentiated advantages in oncology, autoimmune, and rare disease products [10] Summary by Sections Industry Review - The pharmaceutical and biotechnology industry index fell by 4.40%, with chemical preparations and medical devices showing declines of 2.86% and 2.95% respectively, while offline pharmacies and vaccines saw larger declines of 8.22% and 6.42% [6][18] - The PE ratio for the pharmaceutical and biotechnology industry is 29.46x, with the highest valuations in the vaccine (47.56x), hospital (41.17x), and medical device (36.77x) sectors, while pharmaceutical circulation has the lowest at 14.58x [22] Important Industry News - The National Administration of Traditional Chinese Medicine and the National Healthcare Security Administration released a directory for traditional Chinese medicine diseases suitable for disease-based payment [26][27] - AstraZeneca's drug "Durvalumab" received FDA approval for a new indication in perioperative treatment of gastric cancer [32] - Otsuka Pharmaceutical's new drug for IgA nephropathy, "Sibeprenlimab," has been approved by the FDA [38] - Bayer's first-in-class lung cancer drug "Sevabertinib" has been approved by the FDA for specific patient populations [40] Investment Recommendations - Focus on innovative pharmaceutical companies that may benefit from the medical insurance or commercial insurance directories, blood cancer targets with imminent ASH data releases, and biotech and CXO leaders with solid technology platforms and international collaboration expectations [10]

Core Insights - The report emphasizes the significant role of phosphoramidite monomers in the small nucleic acid industry chain, highlighting their impact on the development of small nucleic acid drugs, which are considered promising candidates for treating various diseases due to their unique molecular structures and therapeutic mechanisms [1][6][10] - The report predicts robust growth in the demand for phosphoramidite monomers, with multinational pharmaceutical companies likely to benefit from this trend, as the global nucleotide market is projected to reach USD 730 million in 2023, with China being the largest production market [10][11] Section Summaries Phosphoramidite Monomer's Role - Phosphoramidite monomers are crucial raw materials for synthesizing small nucleic acid drugs, enhancing their stability and biological activity, and driving innovation in drug development [6][9] - The solid-phase phosphoramidite method is the mainstream technique for synthesizing oligonucleotides, which are a major cost component in nucleic acid drug production [9] Market Dynamics - The report notes that 90% of global nucleotides are used for nucleic acid drug production, with only about 10% allocated to health foods and agriculture [10] - The small nucleic acid drug market is primarily dependent on major multinational pharmaceutical companies, indicating potential benefits for companies within their supply chains [11] Investment Recommendations - The report suggests focusing on innovative drug companies such as Furuya Co., OncoOne, and others, as well as raw material suppliers like WuXi AppTec and others, indicating a diverse range of investment opportunities in the sector [10]

Core Viewpoint - The FDA's draft guideline emphasizes the central role of Overall Survival (OS) in oncology clinical trials, marking a shift from reliance on surrogate endpoints to a focus on patient survival benefits, which is exemplified by AstraZeneca's strategic foresight with its drug Osimertinib [1][2][3]. Group 1: Importance of OS in Lung Cancer Treatment - OS is the most direct reflection of patient survival benefits and is crucial for establishing treatment protocols in lung cancer [1]. - The FDA's draft highlights the need for a patient-centered approach, reinforcing OS as the "gold standard" for evaluating drug efficacy and approval [1][2]. - AstraZeneca's Osimertinib has demonstrated significant OS benefits, confirming its leading position in lung cancer treatment [4][6]. Group 2: Competitive Landscape and AstraZeneca's Strategy - The EGFR-TKI market is highly competitive, and relying solely on secondary endpoints like PFS and ORR is insufficient for market success [2][3]. - AstraZeneca's strategy focuses on providing indisputable OS data to differentiate itself in the crowded market [4][6]. - The FLAURA2 study results show that Osimertinib combined with chemotherapy significantly extends OS, with a median OS of 47.5 months compared to 37.6 months for monotherapy [4][6]. Group 3: Comprehensive Pipeline and Innovative Approaches - AstraZeneca has a rich pipeline in lung cancer treatment, including various modalities such as immunotherapy and ADCs, indicating a strong competitive edge [7][10]. - The company employs a precise pipeline strategy focused on OS, with successful approvals like Durvalumab for limited-stage small cell lung cancer showing substantial OS benefits [10][11]. - AstraZeneca's "Go Combo, Go Earlier" strategy emphasizes the importance of combination therapies and early intervention in lung cancer treatment [12][15]. Group 4: Collaborative Ecosystem and Future Goals - AstraZeneca aims to create a comprehensive innovation ecosystem by collaborating with various stakeholders to enhance lung cancer treatment options [12][14]. - The company has set ambitious goals to provide medications to over 50% of lung cancer patients globally by 2030, aligning with national health objectives [12][13]. - AstraZeneca's focus on patient-centered strategies and innovative collaborations positions it as a leader in the lung cancer treatment landscape [16].

Group 1: Long-term Strategic Moves - Changchun High-tech announced plans to issue H-shares and apply for listing on the Hong Kong Stock Exchange, aiming to enhance its global strategy and international brand image despite a decline in revenue and net profit in the first half of the year [1] - The stock price of BeiGene reached a historical high of 346 CNY per share, with a market capitalization surpassing 500 billion CNY, indicating strong market competitiveness and investor preference for high-growth potential in the innovative drug sector [2] Group 2: Clinical Trials and Research Developments - Eli Lilly terminated two Phase II clinical trials for the small molecule GLP-1 receptor agonist Naperiglipron due to commercial strategy reasons, while one ongoing study is expected to conclude next year, which will influence the project's future direction [3] - Canfite BioPharma completed patient enrollment for a Phase III clinical trial of its PD-1/VEGF bispecific antibody, which could provide compelling data for treating advanced biliary tract malignancies and potentially fill a market gap if approved [4] Group 3: Corporate Restructuring - WuXi AppTec announced the transfer of 98.9% equity in Shanghai Hualian Pharmaceutical to a newly established wholly-owned subsidiary, which will not affect the operational activities or financial performance of the target company, but aims to optimize the organizational structure [5]

Core Insights - The 2025 Shenzhen Huimin Insurance program has seen a record participation of over 6.15 million individuals, with coverage extending from July 1, 2025, to June 30, 2026, providing a full year of protection [1] - The program maintains its inclusive nature by allowing participation without restrictions on age, occupation, or health status, and now includes Shenzhen residents with cross-regional medical insurance [1] - The insurance premium has remained stable at 88 yuan per person per year for three consecutive years, while significant upgrades to coverage have been introduced for the 2025 plan [2] Participation and Coverage - The program has attracted participation from nearly 26,000 enterprises, covering over 1.05 million employees, reflecting corporate commitment to employee welfare [2] - The maximum age of participants has reached 113 years, while the youngest is just five days old, showcasing the program's broad demographic reach [1] Benefit Enhancements - The 2025 plan features a substantial reduction in deductibles, with some treatment deductibles lowered by 4,000 yuan compared to the previous year, and a maximum reduction of 28.6% for continuous participants [2] - New coverage includes self-paid hospitalization treatments, with specific advanced medical procedures now eligible for claims, and the reimbursement limit for rare diseases has been increased to 600,000 yuan per year [2] Claims and Payouts - The program has already facilitated claims for participants, with the first payout occurring the day after the coverage became effective, indicating a lower threshold for claims [3] - A notable case involved a participant with significant medical expenses, where the insurance covered 31,066.26 yuan after the initial reimbursement from Shenzhen medical insurance [3][4]

Policy Developments - The Ministry of Finance announced measures regarding government procurement of medical devices imported from the EU, stating that for medical devices with a procurement budget of over 45 million yuan, EU companies (excluding EU-funded enterprises in China) must be excluded from participation if imported products are required [2] Drug and Device Approvals - Weikang Pharmaceutical's Anruini capsules have been submitted for market approval, intended for adult and adolescent patients with solid tumors carrying NTRK fusion genes [3] - AstraZeneca's Imfinzi (Durvalumab) has been approved in the EU for use in muscle-invasive bladder cancer (MIBC) as a neoadjuvant treatment in combination with Gemcitabine and Cisplatin, followed by monotherapy after radical cystectomy [4] Capital Markets - Micot completed a D-round financing exceeding 100 million yuan, led by Zhejiang Merchants Venture Capital, with funds aimed at core pipeline development and the establishment of a formulation industrialization base [5] - Opcon Vision announced plans to use 334 million yuan to acquire 75% of Jiangsu Shangyue Qicheng Hospital Management Co., with part of the funds originally allocated for community optical service terminal construction [6] Industry Developments - Tengsheng Bo Pharmaceutical has reached a BD licensing agreement with Health Yuan for BRII-693, with Health Yuan responsible for its development and commercialization in Greater China [8] - Sunshine Nuohong signed a technical development cooperation contract with Shanghai Lekuang Huilin Pharmaceutical Technology for the STC007 project, with a total milestone payment of 200 million yuan [7] Public Sentiment Alerts - Nengte Technology adjusted the listing price for the 100% equity transfer of its subsidiary, Ankang Shenqian Mining Co., to 114 million yuan, a 15% decrease from the previous listing price [9] Shareholder Actions - Ever Union (H.K.) Limited, a shareholder of Mindray Medical, plans to reduce its stake by up to 5 million shares, representing approximately 0.41% of the company's total share capital [10][11]