Mavorixafor

据蔻德罕见病中心 / 罕见病信息网不完全统计，2026 年 4 月，全球共有 13 款罕见病药物迎来获批上市，覆盖 CDKL5 缺乏症、囊性纤维化、脊髓性肌萎缩症（SMA）、Dravet 综合征等 13 种罕见病，为全球罕见病患者带来新的治疗希望。罕见病视界下面为大家逐一介绍这些重磅新药。 1. 加那索龙 • 治疗疾病：CDKL5 缺乏症 • 企业：Immedica • 获批地区 / 时间：科威特，2026/4/1 CDKL5 缺乏症是一种由 CDKL5 基因突变导致的神经发育障碍性疾病，患者多为儿童，常表现为难治性癫痫、严重发育迟缓等症状。加那索龙作为一种神经活性类固醇，可同时作用于突触和突触外的 GABAₐ受体，通过增强抑制性神经信号，减少神经元的过度兴奋，从而有效控制癫痫发作，为 CDKL5 缺乏症患者提供了新的治疗选择。 2. Vanzacaftor + 替扎卡托 + 氘代艾伐卡托 • 治疗疾病：囊性纤维化 • 企业：Vertex Pharmaceuticals • 获批地区 / 时间：美国，2026/4/1 囊性纤维化是一种常染色体隐性遗传病，由 CFTR 基因突变导致蛋白功能缺陷，影响呼吸系统、消化系统等多个器官。Vertex 公司的这款新一代三联疗法，通过两种校正剂（Vanzacaftor、替扎卡托）促进缺陷 CFTR 蛋白在细胞表面的正常折叠与运输，再由增效剂氘代艾伐卡托增强蛋白通道的开放概率，协同提升 CFTR 蛋白功能，改善患者肺功能与汗液氯化物水平。 3. 艾伐卡托 + 替扎卡托 + Elexacaftor • 治疗疾病：囊性纤维化 • 企业：Vertex Pharmaceuticals • 获批地区 / 时间：美国，2026/4/1 这是 Vertex 公司另一款经典的 CFTR 三联疗法，与上一款药物一同获批，针对不同基因型的囊性纤维化患者。其中 Elexacaftor 和替扎卡托作为校正剂，协同修复缺陷 CFTR 蛋白的加工与运输，艾伐卡托则增强蛋白通道的开放活性，为更多囊性纤维化患者提供了精准治疗方案，显著改善患者的呼吸功能与生活质量。 4. ALLO-ASC-SHEET • 治疗疾病：遗传性大疱性表皮松解症 • 企业：Ishin Pharmaceutical • 获批地区 / 时间：日本，2026/4/3 遗传性大疱性表皮松解症被称为 “蝴蝶宝贝病”，是一种以皮肤和黏膜脆弱、反复水疱和糜烂为特征的罕见遗传性皮肤病。ALLO-ASC-SHEET 是一种异体脂肪来源干细胞片，通过释放肝细胞生长因子（HGF）、血管内皮生长因子（VEGF）等多种细胞因子，促进皮肤创面愈合、减轻炎症反应，为慢性皮肤创面的修复提供了新的再生医学治疗手段。 5. Onasemnogene abeparvovec • 治疗疾病：脊髓性肌萎缩症（SMA） • 企业：诺华 • 获批地区 / 时间：日本，2026/4/3 SMA 是一种常染色体隐性遗传病，由 SMN1 基因突变导致运动神经元存活蛋白缺乏，引起进行性肌肉无力和萎缩，是婴幼儿死亡的主要遗传原因之一。诺华的这款一次性基因疗法，通过 AAV9 载体将正常 SMN 基因递送至患者体内，持续表达功能性 SMN 蛋白，本次在日本的新获批适应症进一步扩大了适用人群，为更多 SMA 患者带来了治疗希望。 6. Pegcetacoplan • 治疗疾病：C3 肾小球病、膜增生性肾小球肾炎 • 企业：苏庇医药 • 获批地区 / 时间：加拿大，2026/4/9 C3 肾小球病和膜增生性肾小球肾炎是一组由补体系统过度激活导致的罕见肾脏疾病，可引起肾功能进行性下降。Pegcetacoplan 是一种靶向 C3 和 C3b 的补体抑制剂，通过阻断补体激活的核心环节，减少下游炎症因子和膜攻击复合物对肾脏的损伤，从而延缓疾病进展，保护肾功能。 7. 司帕生坦 • 治疗疾病：局灶节段性肾小球硬化症（FSGS） • 企业：Travere Therapeutics • 获批地区 / 时间：美国，2026/4/13 FSGS 是一种罕见的肾小球疾病，常表现为蛋白尿、水肿和肾功能衰竭，是导致儿童和青少年终末期肾病的常见原因之一。司帕生坦作为双重内皮素 - 血管紧张素受体拮抗剂，在 III 期 DUPLEX 研究中，相比厄贝沙坦显著降低了患者尿蛋白水平（46% vs 30%），成为首个获 FDA 完全批准用于 FSGS 的特异性治疗药物。 8. 司替戊醇 • 治疗疾病：Dravet 综合征 • 企业：法国百科达药厂 • 获批地区 / 时间：中国，2026/4/14 Dravet 综合征是一种严重的婴儿期起病的癫痫性脑病，患者常表现为难治性癫痫、认知发育迟缓等症状，多数传统抗癫痫药物疗效不佳。司替戊醇通过增强 GABAₐ受体的抑制性功能，同时抑制钠通道活性，与氯巴占、丙戊酸盐联合使用时，可显著减少难治性全身强直阵挛发作，为国内 Dravet 综合征患者提供了关键的治疗方案。 9. 贝莫苏拜单抗 • 治疗疾病：腺泡状软组织肉瘤 • 企业：正大晴天 • 获批地区 / 时间：中国，2026/4/14 腺泡状软组织肉瘤是一种罕见的软组织恶性肿瘤，好发于青少年和年轻成人，易发生远处转移，传统治疗手段有限。贝莫苏拜单抗是我国自主研发的 PD-L1 单克隆抗体，可解除肿瘤对免疫系统的抑制，与安罗替尼联合使用时，通过 “免疫激活 + 抗血管生成” 的双通路协同作用，实现了 82.1% 的客观缓解率，为晚期患者带来了新的治疗选择。 10. Lunsotogene parvec-cwha • 治疗疾病：OTOF 突变相关的听觉障碍 • 企业：再生元 • 获批地区 / 时间：美国，2026/4/23 OTOF 基因突变是导致先天性非综合征性耳聋的常见原因之一，患者多为重度或极重度感音神经性聋，传统治疗手段效果有限。这款基因疗法（商品名 Otarmeni）是 FDA 批准的首个遗传性耳聋基因疗法，通过 AAV 载体将正常 OTOF 基因递送至耳蜗毛细胞，恢复耳铁蛋白的表达，在临床试验中 80% 的参与者听力显著改善，42% 恢复至正常听力水平。 11. 贝泽昔替尼 • 治疗疾病：骨髓纤维化 • 企业：杭州邦顺制药 • 获批地区 / 时间：中国，2026/4/29 骨髓纤维化是一种罕见的骨髓增殖性肿瘤，由 JAK2 基因突变驱动，导致骨髓纤维化、脾肿大和进行性造血功能衰竭。贝泽昔替尼是国内获批的首款高选择性 JAK2 单靶点抑制剂，通过精准抑制 JAK2 V617F 突变，阻断异常 JAK-STAT 信号通路，减少纤维组织增生，改善患者的脾肿大和疾病相关症状，为国内患者提供了新的靶向治疗选择。 12. 安基奥仑赛 • 治疗疾病：原发纵隔大 B 细胞淋巴瘤 • 企业：Curocell • 获批地区 / 时间：韩国，2026/4/29 原发纵隔大 B 细胞淋巴瘤是一种罕见的侵袭性非霍奇金淋巴瘤，好发于年轻成人，复发 / 难治性患者预后较差。安基奥仑赛作为一款靶向 CD19 的 CAR-T 细胞疗法，通过基因工程修饰患者自身 T 细胞，使其精准识别并杀伤肿瘤细胞，为这类复发 / 难治性患者提供了潜在的治愈性治疗手段。 13. Mavorixafor • 治疗疾病：WHIM 综合征 • 企业：X4 Pharmaceuticals • 获批地区 / 时间：EMA，2026/4/29 WHIM 综合征是一种由 CXCR4 基因突变导致的罕见原发性免疫缺陷病，患者常表现为疣、低丙种球蛋白血症、反复感染和粒细胞缺乏。Mavorixafor 是一种口服 CXCR4 拮抗剂，通过阻断 CXCR4 与配体的结合，促进中性粒细胞和淋巴细胞从骨髓迁移至外周血液，改善患者的免疫缺陷症状，是首个获批用于该疾病的口服治疗药物。 2026 年 4 月的这 13 款罕见病新药，覆盖了神经、肾脏、血液、肿瘤、皮肤、免疫等多个领域，从小分子靶向药到基因疗法、细胞治疗，展现了罕见病药物研发的前沿突破，为全球罕见病患者带来了更多治疗希望。不过需要提醒大家，以上内容仅为公开信息整理，不代表治疗方案推荐，如需获得治疗方案指导，请前往正规医院就诊。 也期待未来能有更多罕见病药物加速研发和获批，让更多 “小众群体” 被看见、被治愈。

- Global 4WARD Phase 3 Chronic Neutropenia Trial On Track to Complete Enrollment by the end of Q3 2026 - - European Commission Approval of XOLREMDI® (Mavorixafor) Provides the First and Only Authorized Treatment for Patients with WHIM Syndrome in the European Union - - Balance Sheet Provides Cash Runway through 2028 - BOSTON, May 06, 2026 (GLOBE NEWSWIRE) -- X4 Pharmaceuticals (Nasdaq: XFOR), a company focused on improving the lives of people with rare hematology diseases, today reported financial results for the first quarter ended March 31, 2026 and provided a corporate update. “Our top priority remains the execution and full enrollment of the pivotal 4WARD Phase 3 trial of mavorixafor in chronic neutropenia,” said Adam Craig, M.D., Ph.D., Executive Chairman of X4 Pharmaceuticals. “We remain on track to complete enrollment by the end of the third quarter of this year. In addition, we are pleased that the European Commission granted marketing authorization for XOLREMDI® (mavorixafor) for the treatment of patients with WHIM syndrome in the European Union, reinforcing the broader potential of our program to advance therapies for individuals affected by rare hematologic disorders. We look forward to a smooth transfer of the marketing authorization application to our European partner, Norgine, later this year as they proceed with commercialization plans throughout Europe.” Recent Accomplishments and Updates Continued to advance enrollment in the global 4WARD Phase 3 trial of oral, once-daily mavorixafor (with or without G-CSF) in patients with congenital, acquired primary autoimmune, or idiopathic chronic neutropenia, supported by several targeted initiatives: Expanded to over 110 active clinical trial sites worldwide, including more than 20 in the U.S., enhancing enrollment and regulatory alignment; Increased global Medical Affairs engagement including the implementation of a dedicated patient referral pathway for physicians; and, Leveraging data-driven approaches including database mining to identify potential participants. The European Commission granted marketing authorization for XOLREMDI® (mavorixafor) for the treatment of patients with WHIM syndrome in the European Union (EU). The approval follows a positive opinion from the European Medicines Agency’s Committee for Medicinal Products for Human Use (CHMP). European commercialization will be led by X4 Pharmaceuticals’ partner, Norgine. Under the terms of the license and supply agreement, X4 will receive up to €226 million contingent upon the achievement of certain regulatory and commercial milestones, in addition to escalating double-digit royalties of up to the mid-twenties on any future net sales in the licensed territories. First Quarter Financial Results Cash Position: As of March 31, 2026, the Company’s cash position was $233.7 million. Revenue: Revenue was $2.7 million and $28.8 million for the three months ended March 31, 2026 and 2025, respectively. Net product sales in both periods were primarily attributable to XOLREMDI product sales in the United States. Revenue for the three months ended March 31, 2025 included $27.9 million of license revenue attributable to the Norgine license and supply agreement. Research and Development (R&D) expenses: R&D Expenses were $15.5 million for the three months ended March 31, 2026 as compared to $18.5 million for the three months ended March 31, 2025. The decrease is primarily attributable to decreased headcount following the 2025 strategic restructuring. General and Administrative (G&A) expenses : G&A Expenses were $7.0 million for the three months ended March 31, 2026 as compared to $15.0 million for the three months ended March 31, 2025. The decrease is primarily attributable to decreased headcount following the 2025 strategic restructuring. Net (Loss) Income: Net loss for the three months ended March 31, 2026 was $(20.2) million, or $(0.16) per share, as compared to net income for the three months ended March 31, 2025 of $0.3 million or $0.04 per share. The difference was due to the Norgine license revenue recognized in the first quarter of 2025, partially offset by a significant reduction in operating expenses. About Chronic Neutropenia and Mavorixafor Chronic neutropenia is a primary, rare blood condition characterized by abnormally low levels of circulating neutrophils in the blood lasting more than three months, persistently or intermittently. As a result, people with chronic neutropenia are at an increased risk of serious and life-threatening infections and reduced quality of life. Neutrophils are retained in the bone marrow by the CXCR4/CXCL12 axis, creating a reserve of cells. Mavorixafor is a small molecule delivered in a capsule for oral dosing as a selective antagonist of the chemokine receptor, CXCR4. Down-regulation of the CXCR4 receptor by mavorixafor has been shown to mobilize functional neutrophils from the bone marrow into the peripheral bloodstream across multiple disease states. The level of circulating neutrophils is typically determined by the absolute neutrophil count (ANC) obtained from a blood draw. About the 4WARD Clinical Trial The 4WARD trial is a global, pivotal Phase 3 clinical trial evaluating the efficacy, safety, and tolerability of oral, once-daily mavorixafor (with or without G-CSF) in patients with congenital, acquired primary autoimmune, or idiopathic chronic neutropenia who are experiencing recurrent and/or serious infections. The 52-week trial is a randomized, double-blind, placebo-controlled, multicenter study aiming to enroll 176 patients aged 12 years and older with confirmed trough absolute neutrophil count (ANC) levels less than 1,000 cells per microliter at baseline screening and histories of two or more serious and/or recurrent infections in the prior year. The primary endpoints of the study are the reduction in annualized infection rate and positive ANC response. For more information, visit clinicaltrials.gov (NCT06056297). About X4 Pharmaceuticals X4 Pharmaceuticals is a company focused on improving the lives of people with rare hematology diseases by developing and commercializing innovative therapies in areas with significant unmet needs. Leveraging expertise in diseases of the immune system and CXCR4 biology, X4 has successfully developed mavorixafor, an orally available CXCR4 antagonist that is commercially available in the U.S. as XOLREMDI® in its first indication. The Company is currently conducting a global, pivotal Phase 3 clinical trial (4WARD) evaluating mavorixafor in chronic neutropenic disorders. The U.S. FDA has granted Fast Track designation to mavorixafor for the treatment of chronic neutropenia. X4 is headquartered in Boston, Massachusetts. For more information, please visit . X4 Forward Looking Statements This press release contains forward-looking statements within the meaning of applicable securities laws, including the Private Securities Litigation Reform Act of 1995, as amended. These statements may be identified by the words “may,” “will,” “could,” “would,” “should,” “expect,” “plan,” “anticipate,” “intend,” “believe,” “estimate,” “predict,” “project,” “potential,” “continue,” “target,” or other similar terms or expressions that concern X4’s expectations, strategy, plans, or intentions. Forward-looking statements include, without limitation, implied or express statements regarding the Company’s ability to obtain and maintain regulatory approval for its product candidates, plans for the commercialization of XOLREMDI in the European Union by Norgine, the potential achievement of milestones and receipt of royalties under the Company’s licensing and supply agreement with Norgine, the expected design and enrollment of the Company’s clinical trials, including expected timing for full enrollment in 4WARD, the sufficiency of the Company’s cash resources and its expected cash runway, and future plans for the Company. Any forward-looking statements in this press release are based on management’s current expectations and beliefs. These forward-looking statements are neither promises nor guarantees of future performance, and are subject to a variety of risks and uncertainties, many of which are beyond X4’s control, which could cause actual results to differ materially from those contemplated in these forward-looking statements, including the risks that even if approved, mavorixafor may not ultimately be commercially successful; the Company is unable to initiate and complete its clinical trials, including the 4WARD trial; and other risks and uncertainties, including those described in the section entitled “Risk Factors” in X4’s most recent Annual Report on Form 10-K, as well as in other filings X4 makes with the Securities and Exchange Commission, including its Quarterly Reports on Form 10-Q, from time to time. X4 undertakes no obligation to update the information contained in this press release to reflect new events or circumstances, except as required by law. X4 Investor Contact: Remy Bernarda Jenny Kobin IR Advisory Solutions IR@X4pharma.com Source: X4 Pharmaceuticals, Inc. (Tables Follow) X4 PHARMACEUTICALS, INC. CONDENSED CONSOLIDATED STATEMENTS OF OPERATIONS (in thousands, except per share amounts) (unaudited) Three Months Ended March 31, 2026 2025 License and other revenue $ 239 $ 27,865 Product revenue, net 2,469 942 Total revenue 2,708 28,807 Costs and operating expenses: Cost of revenue 598 4,716 Research and development 15,450 18,513 General and administrative 6,966 15,021 Total operating expense 23,014 38,250 Loss from operations (20,306 ) (9,443 ) Other income, net 65 9,759 (Loss) income before provision for income taxes (20,241 ) 316 Provision for income taxes — 34 Net (loss) income $ (20,241 ) $ 282 Net (loss) income per share: basic $ (0.16 ) $ 0.04 Weighted average shares outstanding: basic 126,289 6,840 Net (loss) income per share: diluted $ (0.16 ) $ 0.04 Weighted average shares outstanding: diluted 126,289 6,869 Balance Sheet Data (unaudited) (amounts in thousands) March 31, 2026 December 31, 2025 Cash and cash equivalents $ 216,908 $ 217,049 Accounts receivable 1,113 573 Marketable securities 16,812 35,949 Working capital 218,211 235,820 Total assets 270,281 290,461 Current portion of long-term debt — — Total stockholders’ equity 168,450 186,290