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 Insights - The latest national medical insurance drug list will be implemented starting January 1, 2026, adding 114 new drugs, including 50 global innovative drugs, marking a record high in both proportion and quantity [1] - The inclusion of innovative drugs, particularly in the field of cancer treatment, is expected to significantly improve patient access to previously unaffordable medications [1][4] Group 1: Drug Inclusion and Impact - The updated medical insurance list includes a significant number of innovative drugs, especially for breast cancer treatment, which is the most common malignant tumor among women globally [1] - In 2022, over 350,000 new breast cancer cases were reported in China, resulting in approximately 75,000 deaths, highlighting the critical need for effective treatments [1] - The most common molecular subtype of breast cancer, HR+/HER2-, accounts for about 80% of all breast cancer patients [1] Group 2: Treatment Advancements - Advances in screening and treatment have led to a significant improvement in the prognosis of early-stage HR+/HER2- breast cancer, with a five-year survival rate exceeding 90% [3] - Despite treatment advancements, some patients still face disease progression or drug resistance, with about 57% of late-stage HR+/HER2- breast cancer patients in China carrying specific genetic alterations [3] Group 3: Targeted Therapies - The inclusion of targeted therapies in the updated insurance list addresses the clinical treatment gap for late-stage HR+/HER2- breast cancer patients with PIK3CA, AKT1, or PTEN mutations [3] - Notable drugs like Abemaciclib and Ribociclib have expanded their insurance coverage to include all indications for early breast cancer, effective from January 1, 2026 [3][4] Group 4: Shift in Treatment Paradigm - The entry of targeted drugs into the insurance framework signifies a shift from traditional chemotherapy to more precise, individualized treatment approaches for breast cancer [4] - The price reduction for these new drugs can exceed 90%, making previously unaffordable targeted therapies accessible to patients [4]

Core Insights - Eli Lilly announced significant results from the Phase 3 EMBER-3 clinical trial of the oral estrogen receptor antagonist imlunestrant, showing a 38% reduction in the risk of disease progression or death in patients with ESR1 mutations compared to endocrine therapy [1][2] - The median progression-free survival (PFS) for imlunestrant was 5.5 months versus 3.8 months for endocrine therapy, with a hazard ratio (HR) of 0.62 [1] - The median overall survival (OS) was extended by 11.4 months, with imlunestrant showing 34.5 months compared to 23.1 months for the control group, achieving a HR of 0.60 [1] - In all patients, the combination of imlunestrant and abemaciclib reduced the risk of disease progression or death by 41%, with a trend towards improved overall survival and a delay in time to chemotherapy exceeding one year [1] Company and Industry Developments - The results were published in the Annals of Oncology and presented at the San Antonio Breast Cancer Symposium (SABCS) [2] - Eli Lilly's Executive Vice President and President of Oncology, Jake Van Naarden, emphasized the clinical benefits of imlunestrant in both monotherapy and combination therapy, reinforcing its position in the treatment landscape [2] - The company is encouraged by the potential of the all-oral combination treatment of imlunestrant and abemaciclib and has submitted relevant data to U.S. regulatory authorities for patients with ESR1 mutation metastatic breast cancer [2]

Core Insights - The article discusses the efficacy and safety of Tirzepatide for weight reduction in Chinese adults with obesity, based on a clinical trial published in JAMA [2][3]. Group 1: Clinical Trial Results - The SURMOUNT-CN trial demonstrated that participants receiving a 15 mg dose of Tirzepatide lost an average of 17.5% of their body weight (16.1 kg) after 52 weeks [3]. - The trial involved 29 centers in China and included adults with a BMI of 28 or higher, or 24 or higher with at least one weight-related comorbidity [3]. - Weight loss percentages at week 52 for the 10 mg, 15 mg, and placebo groups were 13.6%, 17.5%, and 2.3%, respectively [4]. Group 2: Safety and Side Effects - The most common adverse events during Tirzepatide treatment were gastrointestinal issues, mostly mild to moderate in severity, with less than 5% of patients discontinuing treatment due to side effects [4]. - The trial concluded that weekly doses of 10 mg or 15 mg of Tirzepatide provide statistically and clinically significant weight loss with acceptable safety [4]. Group 3: Market Performance and Sales - Eli Lilly reported Q3 2025 revenue of $17.601 billion, a 54% increase year-over-year, with total revenue for the first nine months of 2025 reaching $45.887 billion (+46%) [5]. - Tirzepatide (Mounjaro and Zepbound) significantly contributed to Eli Lilly's revenue, generating $24.837 billion (+125%) in the first three quarters of 2025 [5][6]. - In the U.S. market, Eli Lilly's GLP-1 market share has surpassed that of Novo Nordisk, with prescription volume shares of 57.9% vs 41.7% as of Q3 [7].

Core Insights - The article discusses the challenges and opportunities faced by Eli Lilly, particularly focusing on its GLP-1 drug, tirzepatide, which has generated significant revenue but also poses risks due to reliance on a single product and impending patent expiration [1][2][3]. Financial Performance - Eli Lilly's tirzepatide generated $24.837 billion in revenue in the first three quarters of 2025, a 125% increase year-over-year [1]. - The second-largest revenue product, abemaciclib for breast cancer, only brought in $4.118 billion during the same period, reflecting a growth rate of 10% [1]. - Eli Lilly's total revenue for 2025 is projected to be between $63 billion and $63.5 billion, up from previous estimates of $60 billion to $62 billion [7]. Strategic Initiatives - Eli Lilly has made significant investments in AI, including partnerships with companies like Insitro and OpenAI, and the establishment of a Chief AI Officer position [3][11][13]. - The company aims to leverage AI to enhance drug discovery and development processes, which has positively influenced its stock price and market valuation [9][14]. - Eli Lilly's stock price reached $1,059.70 per share on November 21, 2024, marking a market capitalization of over $1 trillion, making it the first pharmaceutical company to achieve this milestone [4][14]. Market Position and Future Outlook - The GLP-1 class of drugs is expected to become the second-largest drug segment globally by 2028, following oncology treatments, indicating strong market potential [7]. - Eli Lilly is exploring the therapeutic potential of GLP-1 drugs beyond diabetes, targeting areas such as cardiovascular diseases and neurodegenerative disorders [7][8]. - The company's strategic focus on AI and innovative drug development is seen as a key driver for future growth and valuation, positioning it favorably against traditional pharmaceutical companies [14][15].

Core Insights - Eli Lilly has become the first pharmaceutical company to reach a market capitalization of $1 trillion, marking a significant shift in the industry landscape traditionally dominated by tech giants [1][2] - The rise of Eli Lilly reflects a redefinition of value logic in the innovative drug sector, suggesting that the ceiling for drug company valuations is fundamentally tied to market potential rather than traditional metrics [1][3] Company Performance - Eli Lilly's journey to a $1 trillion valuation was driven by the success of its GLP-1 dual-target drug, tirzepatide, with sales of its diabetes version, Mounjaro, increasing by 970% year-over-year, and the obesity version, Zepbound, generating $176 million in its first month [3][4] - By Q3 2025, combined sales of these drugs are projected to exceed $10.1 billion, surpassing Merck's Keytruda to become the new "king of drugs" [4] - Eli Lilly's CEO reported a market share of 70% to 75% among new patients in the U.S., indicating that tirzepatide has become a dominant force in the GLP-1 market [4] Market Strategy - Despite some disappointing clinical data, Eli Lilly is expected to secure approval for the first oral small-molecule GLP-1 drug, orforglipron, which analysts believe will enhance its global market presence [5] - The company is adopting a strategy of price reduction for its obesity drugs, with expected monthly costs dropping from $350 to $245, and potentially to $149 for the oral version, aiming to increase patient access and market size [6][7] - Analysts have raised Eli Lilly's target stock price, with Citigroup projecting a target of $1,500 per share, corresponding to a market cap of $1.4 trillion, driven by the anticipated market expansion from Medicare agreements [7][8] Long-term Challenges - Eli Lilly's success is tempered by the looming challenge of patent expiration, particularly for tirzepatide, which is set to expire in 2036, raising concerns about potential market share erosion from biosimilars and generics [13][14] - The company is expected to generate $187 billion in free cash flow from its obesity drug business by 2030, providing resources for future innovations [14][15] - Eli Lilly is focusing on early-stage research investments rather than large-scale acquisitions, aiming to develop groundbreaking treatments, including a drug for early Alzheimer's disease [14][15] Future Outlook - Eli Lilly's strategy involves leveraging profits from its metabolic drugs to invest in cutting-edge areas such as gene therapy, with recent acquisitions aimed at expanding its portfolio [15] - The company's ability to maintain its $1 trillion valuation will depend on its success in developing new, competitive products beyond the GLP-1 drugs [15]

Core Insights - The collaboration between Nvidia and Eli Lilly aims to establish the world's first dedicated "AI super factory" for the pharmaceutical industry, leveraging advanced computing power to revolutionize drug development throughout its lifecycle [1][4][30] Group 1: Nvidia's Technological Advancements - Nvidia has announced the creation of the DGX SuperPOD supercomputer, built with 1000 B300 GPUs, which enhances computational density by three times compared to traditional supercomputers, significantly reducing model training time from weeks to hours [4] - This supercomputer will be operated by Eli Lilly, providing the necessary computational power for their AI factory to develop, train, and deploy AI models for drug discovery [4][30] Group 2: Eli Lilly's Financial Performance - Eli Lilly reported a third-quarter revenue of $17.6 billion for 2025, a 54% increase year-over-year, with a net profit of $5.58 billion, marking a staggering 475.34% growth [12] - The company’s total revenue for the first nine months of 2025 reached $45.89 billion, a 46% increase compared to the previous year, prompting an upward revision of its full-year revenue forecast to between $63 billion and $63.5 billion [1][12] Group 3: AI Integration in Drug Development - Eli Lilly's AI platform, TuneLab, which includes 18 AI models, will be deployed in the AI factory, enhancing drug discovery efficiency [5] - The AI factory is expected to reduce the early drug discovery cycle by 40% and lower preclinical development costs by 30%, while also enabling the design of novel molecular structures [20][30] Group 4: Industry Context and Competitive Landscape - The collaboration reflects a broader trend in the pharmaceutical industry, where companies are increasingly investing in AI, with many raising their AI R&D budget to over 20% of total R&D expenses [27] - The partnership signifies a shift from traditional drug development methods to a data-driven, intelligent assembly line approach, which may require substantial capital investment [30] Group 5: Long-term Strategic Considerations - Eli Lilly's focus on AI drug development is a strategic response to short-term growth pressures and long-term survival challenges, particularly in light of the impending patent cliff for its key products [13][14] - The company is racing against time to develop new blockbuster drugs before the expiration of key patents, which could significantly impact its revenue base [16][17]

Core Viewpoint - Eli Lilly reported a strong Q3 2025 performance with revenue of $17.601 billion, a 54% year-over-year increase, contributing to a total revenue of $45.887 billion for the first nine months of the year, reflecting a 46% growth [1] Company Performance - The primary drivers of revenue growth for Eli Lilly's pharmaceutical business are Tirzepatide and Abemaciclib, generating $24.837 billion (+125%) and $4.118 billion (+10%) respectively in the first three quarters [1] - The market share of Eli Lilly's GLP-1 products in the U.S. has further expanded in Q3, with prescription volume at 57.9% compared to Novo Nordisk's 41.7% [1] Industry Insights - According to Guojin Securities, the rapid commercialization of Tirzepatide indicates a significant clinical demand in the global diabetes and weight loss market [1] - There remains substantial room for growth in the penetration of GLP-1 class drugs, and the industry is expected to maintain a high level of prosperity as more innovative drugs receive approval [1] - The Hang Seng Medical ETF (159892), which tracks the Hang Seng Biotechnology Index, includes notable companies in the GLP-1 sector such as Innovent Biologics and Hansoh Pharmaceutical, and is likely to benefit from the industry's improving outlook with upcoming clinical data releases and drug application submissions [1]

Core Insights - Eli Lilly reported Q3 2025 revenue of $17.601 billion, a 54% year-over-year increase, with total revenue for the first nine months reaching $45.887 billion, up 46% [2] - The company's revenue distribution shows significant growth across regions, with the U.S. market contributing $30.604 billion (+43%), Europe $8.461 billion (+89%), Japan $1.478 billion (+18%), China $1.477 billion (+20%), and other markets $3.867 billion (+21%) [2] Revenue Breakdown by Therapeutic Area - Eli Lilly's four main therapeutic areas generated revenues of $33.729 billion for cardiovascular and metabolic health, $6.769 billion for oncology, $3.706 billion for immunology, and $0.932 billion for neurology [4] - The primary revenue drivers for Eli Lilly's pharmaceutical business were Mounjaro and Zepbound, generating $24.837 billion (+125%) and $4.118 billion (+10%) respectively in the first three quarters [4] - Mounjaro and Zepbound sales reached $10.1 billion in Q3 and are projected to exceed $35 billion for the full year [4] Market Position and Competition - Eli Lilly's GLP-1 market share in the U.S. has surpassed that of Novo Nordisk, with prescription volume shares of 57.9% versus 41.7% in Q3 [4] - Keytruda, another leading drug, generated $23.3 billion in sales during the first three quarters, highlighting the competitive landscape [4] Research and Development Progress - Eli Lilly achieved significant milestones in R&D, completing six Phase III studies for the small molecule GLP-1R agonist Orforglipron and reaching primary endpoints for Mounjaro in treating type 2 diabetes in children and adolescents [6] - Upcoming developments include the submission of Orforglipron for market approval and the completion of a Phase III study for Retatrutide targeting knee osteoarthritis pain [6] - The company also terminated two clinical projects in Q3, focusing on pain treatment and metastatic breast cancer [6]

Core Viewpoint - The ESMO annual meeting serves as a significant platform for innovative drug companies to disclose critical clinical data, which often catalyzes stock price increases for the companies involved [1] Group 1: Clinical Data and Market Reaction - XuanZhu Biotech presented promising Phase III clinical data for Pyrotinib at the ESMO conference, demonstrating efficacy and safety advantages [1] - Following the announcement, XuanZhu Biotech's stock surged by 31.87%, reaching a new high, reflecting market confidence in the clinical results and the company's future [1] Group 2: Clinical Trial Insights - The randomized double-blind trial involved 397 patients across 58 centers in China, showing that the combination of Pyrotinib with Letrozole or Anastrozole significantly outperformed the control group in terms of median progression-free survival (mPFS) and objective response rate (ORR) [2] - The mPFS was not reached at a median follow-up of 20.7 months, while the ORR was 63.5%, 21 percentage points higher than the control group [2] - The risk of disease progression or death was reduced by 47%, with a 64% reduction in liver metastasis patients, indicating clear therapeutic advantages [2] Group 3: Comprehensive Treatment Strategy - Pyrotinib's data represents a key component of its "full-cycle treatment strategy," having received approval for two indications earlier this year [3] - The drug is positioned to cover the entire treatment spectrum from late-line to first-line therapy, enhancing its market potential [3] Group 4: Competitive Advantages - Pyrotinib has established a unique competitive barrier through its efficacy, safety, and broad indications, outperforming competitors in key metrics [5] - The ORR of 63.5% for Pyrotinib in first-line treatment is significantly higher than that of similar products, indicating its long-term benefit potential [6] - Pyrotinib is the first and only CDK4/6 inhibitor approved for single-agent use in China, filling a critical gap in the treatment of difficult-to-treat breast cancer patients [6] Group 5: Market Potential and Evidence Support - The commercial potential of Pyrotinib is bolstered by strong clinical evidence and progress in reimbursement approval [8] - The drug has established a credible evidence base through publications in top journals and inclusion in clinical guidelines, enhancing trust among healthcare providers [9] - Pyrotinib has passed the initial review for inclusion in the national medical insurance directory, which is expected to significantly boost its sales [10] Group 6: Future Outlook - The successful approval of Pyrotinib for first-line treatment and its anticipated inclusion in the insurance directory could lead to substantial revenue growth for XuanZhu Biotech [10] - The product's comprehensive indication coverage and superior efficacy data position it well for market penetration, potentially replicating or exceeding the sales growth seen with similar products [10] - Pyrotinib's presence at ESMO symbolizes a shift for domestic innovative drugs from "catching up" to "leading," with its clinical advancements and reimbursement progress warranting ongoing investor attention [12]