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 ...

Core Insights - Lung cancer is the most common malignant tumor globally and the leading cause of cancer-related deaths, with non-small cell lung cancer (NSCLC) accounting for over 85% of cases. Despite advancements in clinical management, the 5-year overall survival rate for NSCLC patients has only increased from 15% to 25% [2] - Immune checkpoint inhibitors (ICIs), such as PD-1 and PD-L1 inhibitors, have transformed the treatment landscape for NSCLC. However, the objective response rate (ORR) for unselected NSCLC patients receiving ICI treatment is only 10%-30%, with some patients experiencing accelerated disease progression or early death [2] - A new study identified a circRNA signature (circRNA-Sig) consisting of 11 circRNAs that can predict the response to immunotherapy in advanced NSCLC, potentially guiding clinical treatment [3][8] Summary by Sections CircRNA and Cancer - CircRNA is associated with dysregulated RNA expression in cancer and has potential as a biomarker for predicting responses to ICIs [3] Research Findings - The research team analyzed circRNA expression profiles from 891 advanced NSCLC patients in the OAK and POPLAR clinical trials, identifying significantly differentially expressed circRNAs [4] - A predictive model was constructed using machine learning, which was validated and revealed key circRNAs that may influence the efficacy of NSCLC immunotherapy [4] CircRNA-Sig Model - The circRNA-Sig model demonstrated an area under the curve (AUC) of 0.71 in the OAK trial and 0.67 in the POPLAR trial for predicting the efficacy of atezolizumab [5] - Survival analysis indicated that patients with low circRNA-Sig scores benefited significantly more from ICI treatment compared to chemotherapy (HR=1.347), while high-score patients showed no significant difference [5] - Enrichment analysis suggested that low-score patients exhibited an activated tumor immune microenvironment, indicating a mechanistic link between circRNA and ICI treatment sensitivity [5] Clinical Application - The circRNA-Sig model, validated across two large clinical trial cohorts, offers a new stratification tool for NSCLC patients undergoing atezolizumab treatment, enhancing personalized treatment strategies [8]

Core Insights - The recent ASCO 2025 conference highlighted significant advancements in lung cancer treatment, particularly focusing on various clinical trials and innovative therapies such as immunotherapy, targeted therapy, and ADC drugs [1][2][3] Group 1: Lung Cancer Treatment Developments - The ASCO conference showcased multiple clinical trials related to lung cancer, including studies from Shanghai Chest Hospital and Sun Yat-sen University Cancer Center, emphasizing the competitive landscape in lung cancer therapies [1] - PD-(L)1 inhibitors have revolutionized lung cancer treatment, transitioning from monotherapy to combination therapies, which are expected to enhance patient survival rates [2][7] - The overall survival (OS) remains a critical metric in lung cancer research, with PD-(L)1 inhibitors demonstrating significant clinical benefits [3] Group 2: Market Dynamics - The PD-(L)1 market has shown a compound annual growth rate (CAGR) of 45% over the past five years, significantly outpacing the overall oncology drug market, which has a CAGR of 12.5% [4] - The global market for PD-(L)1 inhibitors is projected to reach $58 billion by 2025, despite a forecasted slowdown in growth rate to 15% [4] - The annual treatment cost for PD-(L)1 inhibitors in China has decreased from approximately 100,000 yuan in 2019 to between 30,000 to 50,000 yuan by 2024, indicating increased market competition [4] Group 3: Product Performance - Baiyue's Tislelizumab (替雷利珠单抗) achieved sales of 4.467 billion yuan in 2024, marking a 17.4% year-on-year increase, driven by new indications and increased patient demand [6] - Tislelizumab has been approved for 14 indications in China, with 13 included in the national medical insurance directory, making it the most covered PD-1 inhibitor [6][5] Group 4: Research and Innovation - Ongoing research into PD-(L)1 inhibitors includes exploring combination therapies and new treatment modalities, which are expected to drive future growth in the market [7][8] - The dual antibody market is anticipated to grow to $80.7 billion by 2030, with significant collaborations between multinational and local companies enhancing the development of new therapies [8]

Core Viewpoint - The company maintains its profit forecasts for 2025 and 2026 at 0.45 billion and 3.20 billion respectively, while upgrading the target price by 22.8% to HKD 11.3, indicating a potential upside of 17.7% from the current stock price [1] Group 1 - The company presented the latest phase II clinical trial data for the FGFR4 inhibitor Irpagratinib (ABSK-011) combined with Atezolizumab for treating advanced hepatocellular carcinoma patients at the ESMO GI conference [2] - The combination therapy showed impressive efficacy and good safety in both first-line and later-line advanced hepatocellular carcinoma patients, with an objective response rate (ORR) of ≥50% and a median progression-free survival (mPFS) of ≥7 months in the 220mg BID dosage group [3] - In patients previously treated with immune checkpoint inhibitors (ICI), the ORR reached 52.9% with an mPFS of 8.3 months, and the treatment was well-tolerated with a 45.5% incidence of grade 3 or higher treatment-emergent adverse events (TEAE) [3] Group 2 - The company is advancing the domestic registration clinical trial for Irpagratinib, with the first patient dosed on June 16, and the therapy received breakthrough therapy designation from the National Medical Products Administration (NMPA) in May [4] - The company received an $85 million global commercialization option exercise fee from Merck for Pimigatinib (ABSK021), which is expected to significantly benefit the company's 2025 performance [5] - The domestic application for Pimigatinib has been accepted by the NMPA for treating giant cell tumor of tendon sheath, with priority review and breakthrough therapy designations already granted [5]

Summary of the Conference Call on Hepatocellular Carcinoma Treatment Industry Overview - The conference focuses on the treatment of hepatocellular carcinoma (HCC), particularly the shift from traditional TKI therapies to targeted and immune combination therapies, which have significantly improved patient outcomes [2][6][10]. Key Points and Arguments 1. **Improvement in Treatment Efficacy**: The efficacy of HCC treatments has increased from 2% in 2008 to 36% currently, with disease control rates rising from 43% to 81.3% and median survival time doubling to nearly two years [2][6]. 2. **ABSK011's Potential**: The small molecule ABSK011, developed by HeYue Pharmaceutical, shows significant efficacy in combination with atezolizumab for advanced HCC, indicating the potential of targeted and immune combination therapies [2][8]. 3. **Challenges in Second-Line Treatments**: Current second-line treatments, such as regorafenib combined with pembrolizumab, show limited efficacy with an objective response rate (ORR) of only 5.9% and progression-free survival (PFS) of 2.8 months [12][14]. 4. **Need for New Combination Therapies**: There is a pressing need to explore new combination therapies and mechanisms, such as PD-L1 combined with CTLA-4 inhibitors and drugs targeting TG antibodies, to overcome existing efficacy bottlenecks [11][13]. 5. **High Incidence of HCC in China**: HCC has a high incidence in China, with approximately 360,000 new cases annually, accounting for half of the global total. The disease ranks fourth or fifth among malignant tumors in incidence and second in mortality [3]. 6. **Milestones in HCC Drug Development**: Key milestones include the recognition of dopamine inhibitors in 2007 and the establishment of immune-targeted therapies as foundational treatments in 2019 [4][7]. 7. **Clinical Trial Results for ABSK011**: In phase I trials, ABSK011 showed a 36.8% ORR and a disease control rate (DCR) of 78.9% at a 220 mg dose, indicating its potential as an effective second-line treatment [5][18]. 8. **Future of HCC Treatments**: New combination therapies, including the potential for triple therapy, are being explored to enhance treatment efficacy and patient outcomes [30][31]. Other Important but Overlooked Content - **Cell Therapy Limitations**: While cell therapies have made progress, they face challenges such as high costs and difficulty in managing adverse reactions, particularly in patients with high tumor burdens [15][16]. - **FGF19 Expression in HCC Patients**: Approximately 30% of HCC patients express FGF19, which is crucial for targeted therapies. The detection methods and the implications of expanding the positive definition for patient selection are under discussion [28][32]. - **Market Potential for ABSK011**: If approved, ABSK011 could significantly benefit around 30% of patients, indicating a strong market potential [35]. This summary encapsulates the critical insights from the conference call regarding the advancements and challenges in the treatment of hepatocellular carcinoma, highlighting the importance of ongoing research and development in this field.

Investment Rating - The report indicates a positive investment rating for the innovative drug sector, particularly highlighting the success of the combination therapy of Bemesumab and Anlotinib in treating NSCLC [8][11]. Core Insights - The report emphasizes the significant progress in the treatment of non-small cell lung cancer (NSCLC) through innovative therapies, particularly the combination of immune checkpoint inhibitors and anti-angiogenic agents, which have shown improved progression-free survival (PFS) rates compared to traditional therapies [7][11]. - The CAMPASS trial demonstrated that the combination of Bemesumab and Anlotinib significantly extended the median PFS to 11.0 months compared to 7.1 months for the control group, marking a notable advancement in first-line treatment options for PD-L1 positive advanced NSCLC [11]. - The report also discusses the ongoing clinical trials and the potential for new drug approvals, indicating a robust pipeline for innovative therapies in the oncology sector [12][47]. Summary by Sections Section 1: Focus on Innovative Drugs - The report reviews the latest developments in innovative drugs, particularly in the context of NSCLC treatments and highlights the importance of combination therapies [2][3]. Section 2: Clinical Trial Results - The report details the results of the CAMPASS trial, which compared the efficacy of Bemesumab combined with Anlotinib against Pembrolizumab in treating advanced NSCLC, showcasing a significant improvement in PFS [11][12]. - It also covers the mid-term analysis of the TQB2450-III-12 trial, which further supports the efficacy of the Bemesumab and Anlotinib combination in squamous NSCLC [13]. Section 3: Market Developments - The report notes the recent approvals and submissions for new drug indications, reflecting a dynamic and rapidly evolving market for innovative cancer therapies [45][49]. - It highlights the performance of various biotech companies in the market, indicating significant fluctuations in stock prices and market capitalization [41][43].

Core Insights - Roche's TALENTACE study achieved its primary endpoint, demonstrating significant improvement in TACE-PFS for patients with unresectable HCC who had not received prior systemic therapy [1] - The study innovatively combined immune checkpoint inhibitor atezolizumab with anti-angiogenic therapy bevacizumab and on-demand TACE, showing potential for a new treatment paradigm in HCC [1] Group 1 - The TALENTACE study showed statistically and clinically significant improvement in TACE-PFS, with the overall survival data still immature at the time of the interim analysis [1] - The study's design included TACE-PFS as the primary endpoint, providing high-level evidence for the combined treatment approach in HCC patients with intermediate to high tumor burden [1] - Safety profiles of atezolizumab and bevacizumab were consistent with previous data and underlying conditions [1] Group 2 - Roche's Vice President of Medical Affairs in China expressed excitement over the TALENTACE study results and emphasized the company's commitment to addressing local clinical needs in liver cancer treatment [2] - The company aims to enhance global research collaboration and accelerate the accessibility of innovative therapies, contributing to China's cancer prevention and control goals for 2030 [2]