ReviR联合创始人兼董事长李阳表示，ReviR聚焦无药可治的患者群体与未被满足的临床需求，致力于 利用AI、立足RNA功能，开辟创新治疗范式。RTX-117的临床获批，印证了ReviR与晶泰控股在 AI+RNA领域深度碰撞出的创新爆发力。这不仅是一条管线的突破，更是研发范式的升维。 1月7日，晶泰控股(02228.HK)公布，其孵化企业溪砾科技(下称"ReviR")获得国家药品监督管理局核准签 发的关于小分子管线RTX-117用于治疗腓骨肌萎缩症(CMT)的《药物临床试验批准通知书》，将按计划 于2026年第一季度开启I期临床试验。 作为港股"AI+机器人"第一股，晶泰控股凭借"量子物理+AI+大规模机器人实验"的独特技术闭环，构建 起行业领先的标准化、自动化研发基础设施与智能药物研发平台，横跨小分子、抗体、多肽、ADC、 分子胶等多种药物形态，具备了规模化输出能力，已获得全球前20大药企中17家的长期合作与信赖。 据介绍，RTX-117是国内首款针对CMT的1类创新药管线，也是ReviR与晶泰控股深度合作、借助AI+机 器人辅助研发的一系列罕见病药物管线中首个进入临床的项目。晶泰控股将获得相应的里程碑付款 ...

CMT 位列 2018 年国家卫健委公布的《第一批罕见病目录》第17位，是一种进展性强、致残性高的罕见病，全 球患病率为 17.7~40/10 万，患者总数超过 260 万人，属于罕见病中较为常见的疾病。据 IMARC Group 统计， 2024 年全球七大主要市场(美国、欧盟四国、英国及日本)的CMT治疗市场规模已达到 $10.13 亿美元，预计将 以 24.62% 的复合年均增长率(CAGR)在 2035 年激增至 $113.94 亿美元，展现出显著的临床需求与市场增长潜 力。据中山大学公共卫生学院(深圳)2025 年最新调查，CMT 患者发病年龄中位数为 7.3 岁，疾病发病年龄早、 诊断周期长，且缺乏有效治疗手段。病症常表现为腿部肌无力和肌萎缩，并伴随骨骼畸形、疼痛、感觉减退、 运动发育迟缓等症状。众多患者因病致残，仅能通过手术和康复训练等方式缓解症状，存在巨大未被满足的治 疗需求。 在全球范围内，腓骨肌萎缩症(CMT)当前在研管线稀缺，更无获批上市药物，RTX-117 为国内首款获批进入临 床的腓骨肌萎缩症(CMT)1 类创新药，代表了中国在 CMT 疗法全球研发中的突破性进展。该药物为 Revi ...

Core Insights - The National Medical Products Administration (NMPA) in China has approved Sanofi's two medicines for rare hematologic diseases: Qfitlia for hemophilia and Cablivi for acquired thrombotic thrombocytopenic purpura [1][2] - These approvals mark Sanofi's fourth and fifth in China this year, expanding its rare hematology portfolio [2][5] Group 1: Qfitlia - Qfitlia is indicated for routine prophylaxis to prevent or reduce bleeding episodes in pediatric patients aged 12 and older, and adults with severe hemophilia A [2][3] - The approval is based on ATLAS phase 3 studies showing significant bleed protection, with a 71% reduction in annualized bleeding rates (ABR) for patients without inhibitors and a 73% reduction for patients with inhibitors [3][7] - Nearly half of the patients in the open-label extension study experienced one or fewer bleeds, with 94% achieving target AT levels with minimal dose adjustments [7] Group 2: Cablivi - Cablivi is the first Nanobody targeted therapy for treating acquired thrombotic thrombocytopenic purpura in adults and adolescents aged 12 or older [4][5] - It targets von Willebrand factor (vWF) to inhibit the interaction between vWF and platelets, helping to prevent organ damage during the disease [5] - Approximately 2,700 patients are diagnosed with this condition annually in China [4]

Mirum Pharmaceuticals (NasdaqGM:MIRM) M&A Announcement December 08, 2025 08:30 AM ET Company ParticipantsChris Peetz - CEORyan Deschner - Vice President of Biotechnology Equity ResearchMeredith Kiernan - Head of Global Corporate CommunicationsJoanne Quan - Chief Medical OfficerCharlie Moore - Senior Biotech Equity Research AssociateEric Bjerkholt - CFOJames Condulis - Vice President of Biotechnology Equity ResearchMani Foroohar - Senior Managing DirectorPeter Radovich - President and COOMichael Ulz - Execut ...

Mirum制药于周一宣布，将以最高 8.2 亿美元的价格收购蓝鸟治疗公司，此举将为其产品组合增添一款 用于治疗严重肝病的后期实验性药物。 根据协议条款，Mirum制药将先期支付 2.5 亿美元现金和 3.7 亿美元股票，同时还可能支付最高 2 亿美 元的基于销售额的里程碑款项。 Mirum制药首席执行官克里斯・皮茨表示："此次收购完全契合我们最核心的业务方向 —— 为罕见病患 者研发高影响力药物。" 通过这笔交易，Mirum制药将获得单抗药物布雷洛维妥（brelovitug）的全球权益。该药物正处于慢性丁 型肝炎的临床试验阶段，丁型肝炎是一种罕见且病情进展迅猛的肝脏疾病，在美国和欧洲约影响 23 万 人，目前尚无获批治疗方案。 在一项中期临床试验中，接受布雷洛维妥治疗 48 周的所有患者，其丁型肝炎病毒载量均出现下降，且 最高有 82% 的患者肝酶水平恢复正常。 Mirum制药同时透露，已通过向医疗健康领域投资者定向增发的方式筹集到 2 亿美元资金，用于支持该 药物的后续研发与商业化。 目前这款药物已进入后期临床试验阶段，预计 2026 年下半年将公布试验结果。若试验取得成功， Mirum制药计划于 2027 ...

Core Insights - Pharming Group N.V. is participating in the Oppenheimer Movers in Rare Disease Summit on December 11, 2025, in New York City, focusing on innovative companies and investors in the rare disease sector [1] - Anurag Relan, M.D., Chief Medical Officer of Pharming, will engage in a discussion about the hereditary angioedema (HAE) market during the event [1] Company Overview - Pharming Group N.V. is a global biopharmaceutical company dedicated to developing and commercializing innovative medicines for patients with rare, debilitating, and life-threatening diseases [3] - The company is headquartered in Leiden, the Netherlands, with a significant number of employees based in the U.S. [3]

Financial Data and Key Metrics Changes - The company is excited about the upcoming pivotal study for Avexitide, targeting post-bariatric hypoglycemia (PBH), with an estimated 160,000 patients in the U.S. and no approved treatments [2][6][12] - Enrollment for the pivotal study is expected to complete in Q1 2026, with top-line results anticipated in Q3 2026, leading to potential commercialization in 2027 [2][3] Business Line Data and Key Metrics Changes - Avexitide is positioned as a competitive inhibitor of the GLP-1 receptor, with significant unmet needs in PBH and strong prior trial data supporting its efficacy [5][6] - The company is also developing a long-acting formulation of Avexitide, which is expected to enhance market appeal [3][21] Market Data and Key Metrics Changes - There is a growing awareness of PBH among endocrinologists, with initiatives for coverage and coding underway, including a petition for an ICD-10 code [9][36] - The company has identified a clear patient journey for PBH, which aids in diagnosis and treatment planning [34][41] Company Strategy and Development Direction - The company aims to leverage its experience in rare diseases to establish a robust commercialization strategy for Avexitide, focusing on patient connectivity and care pathways [30][32] - Future plans include exploring additional indications for Avexitide beyond Roux-en-Y gastric bypass patients, potentially expanding to sleeve gastrectomy and other surgeries [18][19] Management's Comments on Operating Environment and Future Outlook - Management expressed optimism about the upcoming pivotal trial results and the potential impact of Avexitide on patient quality of life [12][14] - The company is preparing for a chronic treatment model, anticipating ongoing patient management needs [31][32] Other Important Information - The company is also advancing its ALS candidate AMX0114, with ongoing studies to assess its safety and efficacy [53][56] - AMX0035 for Wolfram syndrome is in the pipeline, with plans for a phase three trial pending FDA alignment [65][66] Q&A Session Summary Question: What is the expected timeline for Avexitide's pivotal study results? - The company anticipates completion of enrollment in Q1 2026 and top-line results in Q3 2026, with commercialization targeted for 2027 [2][3] Question: How does the company plan to raise awareness about PBH? - The company is working with the American Society of Metabolic and Bariatric Surgery to develop educational materials and increase awareness among healthcare providers [40][41] Question: What is the significance of the potential ICD-10 code for PBH? - While the ICD-10 code is seen as beneficial for claims databases and awareness, it is not deemed essential for diagnosis, as endocrinologists are already trained to recognize PBH [46][47]

Summary of Travere Therapeutics FY Conference Call Company Overview - **Company**: Travere Therapeutics (NasdaqGM:TVTX) - **Date**: December 02, 2025 - **Key Focus**: The company is focused on the ongoing launch of FILSPARI for IgA nephropathy, an SNDA with the FDA for FSGS, and enzyme replacement therapy for classical homocystinuria (HCU) [2][3][4] Core Points and Arguments FILSPARI Launch and Growth - **IgA Nephropathy**: The launch of FILSPARI is seeing strong growth, supported by the nephrology community and recent KDIGO guidelines that emphasize urgency in treating patients to prevent kidney failure [2] - **Patient Reach**: The company has reached a significant number of new patients this year, indicating robust market acceptance [2] FSGS SNDA and Regulatory Process - **SNDA Submission**: An SNDA for FSGS is under review, with a PDUFA date set for January 13, 2026. The process is straightforward, with no mid-cycle or late-cycle meetings planned [3][4] - **Labeling Expectations**: The company anticipates a broad indication for FSGS treatment without specific proteinuria cutoffs, as many patients present with high proteinuria levels [6][9] Market Potential and Patient Population - **Addressable Population**: The estimated addressable population for FSGS is around 30,000 patients, which could expand to 40,000-50,000 if secondary patients are included [10][9] - **Provider and Payer Dynamics**: Nephrologists are eager to prescribe FILSPARI, especially for secondary patients, despite challenges in identifying the etiology of FSGS. Payers may face difficulties in managing secondary populations due to the lack of specific ICD-10 codes [11][12][13] Manufacturing and Enrollment Challenges - **HCU Therapy**: The company faced manufacturing scale-up challenges but is now on track to resume enrollment in the phase three trial for pegtibatinase for HCU next year [3][26] - **Patient Support**: The company emphasizes the importance of patient support services to help patients reach target doses and maintain compliance [16][18] Financial Dynamics - **Revenue Growth**: Revenue from FILSPARI is outpacing patient start forms, attributed to the time required for reimbursement processes post-approval [19][20] - **Future Expectations**: The company expects a more stable dynamic between new patient prescriptions and reimbursements moving forward [21][23] Combination Therapy Considerations - **Combination with BAFF APRIL**: The company is optimistic about the potential for payers to approve FILSPARI in combination with BAFF APRIL therapies, especially for severe patients [24][25] HCU Study Design - **Enrollment Cadence**: The company plans to quickly ramp up enrollment for the HCU trial, having already identified interested patients and providers [26] - **Dietary Protocol**: A sub-study will explore how much protein can be introduced into patients' diets while maintaining control of homocysteine levels, which is a significant concern for patients [27][28] Other Important Points - **Eagerness for Approval**: There is a high level of eagerness among physicians to prescribe FILSPARI for FSGS, indicating a strong unmet need in the market [18] - **Patient-Centric Approach**: The company is focused on addressing patient needs, particularly in terms of dietary flexibility and treatment efficacy [27][28] This summary encapsulates the key points discussed during the conference call, highlighting the company's strategic priorities, market dynamics, and future expectations.

获受理10个多月后，天坛生物（SH600161，股价17.61元，市值348.22亿元）旗下一款投入2.66亿元研 发的血友病药物，撤回了上市申请。 11月19日晚间，这家国内头部血液制品公司发布公告，称下属企业成都蓉生药业有限责任公司（以下简 称成都蓉生）撤回了"注射用重组人凝血因子Ⅶa"的药品注册申请，原因是根据CDE（国家药品监督管 理局药品审评中心）的审评意见，需要补充儿童（＜12岁）患者群体的临床试验相关数据。 《每日经济新闻》记者注意到，目前国内共有2款同类药物获批，分别来自丹麦药企诺和诺德和国内药 企正大天晴药业集团南京顺欣制药有限公司（以下简称正大天晴），后者的药物于今年7月获批，适用 于符合条件的成人及青少年（12岁以上）先天性血友病患者的出血治疗。 那么，问题来了：同类国产药物的获批适应证不包含12岁以下患者，成都蓉生为何需要补充儿童数据？ 被外资企业占有九成以上份额的罕见病儿童药物市场，正在发生哪些变化？ 唯一国产药物7月获批 要了解注射用重组人凝血因子Ⅶa这款药物，首先要了解血友病。 在相关资料中，正大天晴表示该药物实现了本土化生产，打破了进口依赖，解决了进口rFⅦa供应短缺 的现状。 ...

过去几年，罕见病药物断供事件偶有发生，但"超罕"家庭面临的困境更为残酷——无药可用甚至成为常 态。 超罕见病(俗称"超罕")，是罕见病中患病率极低、确诊人数极少的细分群体。据国家卫健委第二届罕见 病诊疗与保障专家委员会委员谢俊明介绍，如果一种疾病的发病人数在1400人以内，即发病率低于百万 分之一，那么这种疾病就是"罕见病中的罕见病"。戈谢病、庞贝病、法布雷病等均在此列，国内确诊患 者仅数百人。 近年来，国内罕见病领域的用药难问题取得多项突破。截至去年底，90余种罕见病治疗药品已纳入国家 医保药品目录。据蔻德罕见病中心统计，共覆盖《罕见病目录》里超过50种罕见病。 但是，"超罕"家庭的困境却鲜有人知。李明(化名)是一位8岁EA患儿的母亲。几年前，她的女儿出现反 复症状，时而严重，时而轻微。辗转多家医院问诊治疗一直没找到缓解的办法，在发病三年后，最终被 确诊为EA。 公开资料显示，这是一类以发作性小脑功能障碍为特征的神经系统遗传病，核心表现为间歇性共济失调 发作，发作期间患者神经功能通常正常或仅伴轻微症状。由于过于罕见，EA缺乏系统性流行病学调 查，暂无公开的患者数量或发病率数据，且间歇性特征使其更难识别统计， ...