A long-term, open label, extension study to assess the efficacy and safety of beta-glucuronidase enzyme replacement therapy in Japanese patients with mucopolysaccharidosis type VII, Sly disease

开始日期2020-01-06

申办/合作机构-

NCT02432144

/ Completed临床3期

A Long-Term Open-Label Treatment and Extension Study of UX003 rhGUS Enzyme Replacement Therapy in Subjects With MPS 7

The primary objective of the study is to evaluate the long-term safety of UX003 in subjects with MPS 7.

开始日期2015-11-10

申办/合作机构

Ultragenyx Pharmaceutical, Inc.

NCT02418455

/ Completed临床2期

An Open-label Study of UX003 rhGUS Enzyme Replacement Therapy in MPS 7 Patients Less Than 5 Years Old

The primary objective was to evaluate the effect of UX003 treatment in pediatric MPS VII participants less than 5 years of age on safety, tolerability, and efficacy as determined by the reduction of urinary glycosaminoglycans (uGAG) excretion.

开始日期2015-07-21

申办/合作机构

Ultragenyx Pharmaceutical, Inc.

100 项与 Vestronidase Alfa-VJBK 相关的临床结果

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100 项与 Vestronidase Alfa-VJBK 相关的转化医学

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100 项与 Vestronidase Alfa-VJBK 相关的专利（医药）

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项与 Vestronidase Alfa-VJBK 相关的文献（医药）

2026-01-01·JOURNAL OF INHERITED METABOLIC DISEASE

Natural‐History Mapping of Lysosomal Storage Disorders ( LSDs ): Gaucher Disease as a Model for Precision Care

Review

作者: Vaishnaw, Maya ; Mistry, Pramod. K. ; Ain, Noor Ul

ABSTRACT:

Natural‐history datasets have become pivotal for drug development and for shaping clinical‐practice guidelines in rare diseases, yet many lysosomal storage disorders would benefit from deep phenotyping and modern analytic methods. Our objective was to integrate the past decade of genomic, cellular, treatment‐outcome, and regulatory advances into a practical framework for capturing and interpreting natural‐history data, using Gaucher disease (GD) as a paradigm. We reviewed more than 300 peer‐reviewed articles (2005–2025), FDA guidance documents, and output from large real‐world registries. Particular attention was paid to long‐read GBA sequencing, biomarkers such as lyso‐Gb1, emerging newborn screening programs, and preliminary observational work that points toward multi‐state disease modeling. Key observations include: (i) Whole‐gene sequencing has expanded genotype–phenotype maps, revealing more than 70 recombinant GBA alleles that confound panel tests; (ii) registry trajectories suggest that formal multi‐state models could capture treatment‐modified courses and silent endpoints—monoclonal gammopathy, malignancy, Parkinson's disease, pulmonary arterial hypertension—better than current summary statistics; (iii) lyso‐Gb1 outperforms legacy biomarkers and now serves as a second‐tier newborn‐screening marker; (iv) Robust natural‐history evidence has already underpinned regulatory approvals across several lysosomal disorders—including olipudase alfa for ASMD, cerliponase alfa for CLN2, vestronidase alfa for MPS VII, and sebelipase alfa for infantile‐onset LAL‐D—demonstrating that well‐curated registries can serve as viable external controls for future LSD submissions. The convergence of deep phenotyping, genotype‐aware analytics, and systematic biomarker capture promises to transform natural‐history registries from descriptive archives into predictive engines. Gaucher disease offers a working template that, when extended across the LSD spectrum, can accelerate precision care and the development of next‐generation therapeutics.Trial Registration:ClinicalTrials.gov identifier: NCT00358943, NCT03291223.

2022-05-01·Molecular genetics and metabolism2区 · 生物学

Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII

2区 · 生物学

Article

作者: Marsden, Deborah ; Jurecka, Agnieszka ; Taylor, Julie ; Malkus, Betsy ; Martins, Esmeralda ; Lau, Heather A ; Viskochil, David ; Tanpaiboon, Pranoot ; Zhang, Lin ; Lopez, Antonio Gonzalez-Meneses

Mucopolysaccharidosis (MPS) VII is an ultra-rare, autosomal-recessive, metabolic disease caused by a deficiency of β-glucuronidase, a lysosomal enzyme that hydrolyzes glycosaminoglycans (GAGs), including dermatan sulfate (DS), chondroitin sulfate, and heparan sulfate (HS). β-glucuronidase deficiency leads to progressive accumulation of undegraded GAGs in lysosomes of affected tissues, which may cause hydrops fetalis, short stature, hepatosplenomegaly, and cognitive impairment. An open-label, multicenter, phase II study was conducted in 8 pediatric subjects <5 years of age with MPS VII. Subjects received the recombinant human β-glucuronidase vestronidase alfa 4 mg/kg by intravenous infusion every other week for 48 weeks (treatment period). Those who completed the 48-week treatment were offered to continue treatment with vestronidase alfa 4 mg/kg for up to 240 weeks or until withdrawal of consent, discontinuation, or study termination (continuation period). The level of GAG excreted in urine (uGAG) above normal has been shown to correlate with disease severity and clinical outcomes in MPS diseases. Therefore, the primary efficacy endpoint of this study was to determine the mean percentage change in uGAG DS excretion from baseline to week 48. Statistically significant reductions in uGAG DS from baseline were observed at each visit (p < 0.0001), with a least square mean (standard error) percentage change of -60% (6.6) at week 4 (first post-baseline assessment) and -61% (6.41) at week 48 (final assessment during treatment period). Secondary efficacy endpoints included change from baseline to week 48 in growth and hepatosplenomegaly. Positive trends were observed toward increased standing height Z-score (mean [standard deviation] at baseline, -2.630 [1.17], n = 8; at week 48, -2.045 [0.27], n = 7) and growth velocity (mean [SD] Z-score at baseline, -2.59 [1.49], n = 4; at week 48, -0.39 [2.10], n = 4; p = 0.27). Hepatomegaly was resolved in 3 of 3 subjects assessed by ultrasound and in 5 of 6 subjects assessed by physical examination; splenomegaly was resolved in 1 of 3 subjects assessed by ultrasound and in 2 of 2 subjects assessed by physical examination. There were no new safety signals identified during this study. Mild-to-moderate infusion-associated reactions occurred in 4 (50%) subjects. In conclusion, long-term vestronidase alfa treatment demonstrated a rapid and sustained reduction in uGAGs, maintained growth, and improved hepatosplenomegaly in pediatric subjects with MPS VII <5 years of age. Trial registration: NCT02418455.

2021-09-01·Molecular genetics and metabolism reports4区 · 医学

Open-label phase 1/2 study of vestronidase alfa for mucopolysaccharidosis VII

4区 · 医学

ArticleOA

作者: Jurecka, Agnieszka ; López, Antonio González-Meneses ; Sniadecki, Jennifer ; Hensman, Pauline ; Mayhew, Jill ; Coker, Mahmut ; Jones, Simon

Vestronidase alfa is an enzyme replacement therapy for mucopolysaccharidosis VII (MPS VII). In this open-label, phase 1/2 study, three subjects with MPS VII received intravenous vestronidase alfa administered every other week (QOW) for 14 weeks (2 mg/kg), followed by 24-week forced-dose titration (1, 4, and 2 mg/kg QOW; 8 weeks each), 36-week continuation (2 mg/kg), and long-term extension (4 mg/kg). Vestronidase alfa was well tolerated and led to dose-responsive, sustained reductions in urinary glycosaminoglycan excretion.

项与 Vestronidase Alfa-VJBK 相关的新闻（医药）

2026-07-29

·BioSpace

Biotechs bring big launches and pharma rivalries into Q2 earnings period

iStock, ismagilov With the second quarter earnings period underway, BioSpace examines five biotechs with meaningful catalysts that analysts and investors are watching. Biotechs are heading into the second quarter earnings period ready to pressure their Big Pharma peers with new drug launches. More than ever, smaller biotechs are choosing to go at it alone to market their drugs, rather than partner up or sell. This has created a dynamic environment among these upstart companies, with plenty of eyes watching to see if they succeed. From Agios Pharmaceuticals to Ultragenyx, BioSpace takes a look at five biotechs with major catalysts to report on over the next few weeks. ezstandalone.cmd.push(function () { ezstandalone.showAds(129); }); Earnings Q2 earnings arrive as pharma picks up steam, buoyed by dealmaking, policy tailwinds Biopharma is entering its second-quarter earnings season riding high on a wave of massive deals and venture capital flow, plus a clearing of regulatory and policy overhangs. What can industry watchers expect to hear on the upcoming investor calls? July 15, 2026 · 6 min read · Tristan Manalac Read more Agios Pharmaceuticals Q2 stock performance: 35% Earnings date: July 30 After reporting the failure of a Phase 2 study for tebapivat in sickle cell disease, Agios’ management will have to show confidence in the biotech’s remaining pipeline when reporting second quarter earnings. Last week, Agios announced that the next-generation PK activator would be discontinued after failing to differentiate from the company’s own mitapivat or Novo Nordisk’s etavopivat. Analysts hadn’t given tebapivat a lot of credit heading into the readout, but the candidate served as a “narrative enricher for longer-term franchise durability,” according to Truist Securities. The failure of the candidate puts more “concentrated risk” on mitapivat, just as the drug class gets more competition from Novo Nordisk. Mitapivat is already approved as Pyrukynd for pyruvate kinase (PK) deficiency and Aqvesme for alpha- or beta-thalassemia. In the second quarter presentation, Truist will be watching for details on the thalassemia launch and the drug’s potential in sickle cell disease with tebapivat out of the running. The drug is under FDA review via the accelerated pathway for the indication with a decision date set for November 1. Arrowhead Pharmaceuticals FY3Q stock performance: 567% Earnings date: August 4 Arrowhead Pharmaceuticals has already begun its fiscal fourth quarter of 2026 on strong footing, with the announcement last week that two Phase 3 studies of plozasiran in severe hypertriglyceridemia (sHTG) were successful . The results sent the company’s shares up 20% that day to $91.48, while rival Ionis Pharmaceuticals dipped. Analysts had been anticipating the readout in the leadup to fiscal third quarter earnings. Beyond the outstanding results of those sHTG trials, analysts are watching for a second half readout for Arrowhead’s obesity programs , ARO-INHBE and ARO-ALK7. ARO-INHBE has already shown a doubling of the weight loss achieved by Eli Lilly’s tirzepatide in an interim readout from a small group of patients in two Phase 1/2a trials. “ARWR is ahead of peers across both the INHBE+ALK7 programs, w/ multiple paths forward depending on data,” Jefferies wrote in an earnings preview. Arrowhead is also expecting data for the Alzheimer’s disease therapy ARO-MAPT in the third quarter, which could help validate the company’s blood-brain barrier delivery tech. On the commercial side, Arrowhead celebrated its first ever approval late last year, when plozasiran was approved to reduce triglycerides in adults with familial chylomicronemia syndrome (FCS). As of the company’s last earnings call, the drug was “trending better” than Ionis’ rival product, according to Jefferies. The firm is expecting sales of about $6 million for the quarter. C-suite Caught In Sarepta ‘Downdraft,’ Arrowhead Becomes RNAi Knight in Shining Armor Sarepta’s troubles had nothing to do with Arrowhead’s assets, and yet both companies have seen their stock prices decline this past month. BioSpace caught up with Arrowhead’s Chris Anzalone to talk about the biotech’s role as an RNAi pipeline savior. August 12, 2025 · 7 min read · Annalee Armstrong Read more BridgeBio Q2 stock performance: 125% Earnings date: TBD BridgeBio is on track to deliver a strong second quarter report, as Attruby continues to steal market share in the crowded transthyretin amyloid cardiomyopathy (ATTR-CM) space, according to Jefferies. The drug is expected to make sales of $215 million for the quarter thanks to increases in front-line uptake, the firm predicted in a July 19 note to clients. This growth is expected to continue quarter-over-quarter going forward, which will in turn build investor confidence in BridgeBio’s next three planned launches in rare disease, Jefferies said. The company is working toward FDA approvals for BBP-418 in limb girdle muscular dystrophy type 2, infigratinib in alternating hemiplegia of childhood and encaleret in autosomal dominant hypocalcemia type 1. Infigratinib was approved in 2021 for cholangiocarcinoma and is marketed as Truseltiq. Each of these could mean $1 billion opportunities for BridgeBio, Jefferies noted, while Attruby is on track to deliver $3–$4 billion in peak sales in ATTR-CM. The drug faces competition from Pfizer’s Vyndaqel and Vyndamax, Alnylam’s Amvuttra and Ionis/AstraZeneca’s eplotersen in the space, but fears that BridgeBio will lose significant market share are subsiding as the market becomes more mature, according to Jefferies. Ionis Pharmaceuticals Q2 performance: 190% Earnings date: July 29 Ionis is well ahead in the marketplace with Tryngolza, which now has two approved indications in familial chylomicronemia syndrome (FCS) and severe hypertriglyceridemia (sHTG) but is still facing immense pressure from Arrowhead. Analysts are expecting Ionis’ overall revenue to decline by more than half when the company reports earnings this week, as the price of the drug declines significantly to match the entry into a more common sHTG indication. Guggenheim analysts have revenue estimates above consensus at $209 million. This would mark a year-over-year decline of about 54% from last year, when revenue was $452 million . The slightly optimistic take as compared to consensus stems from higher than expected estimates for R&D collaboration revenue, since Recordati paid a $30 million upfront fee for a partnership with Ionis at the end of June. With the price reduction, Guggenheim has lowered its sales expectations to $2.9 billion as compared to $3.2 billion prior. But the analysts are optimistic that the dip for Tryngolza, which is now approved for FCS and sHTG, will be short lived as the sHTG label highlighted the therapy’s ability to reduce the risk of acute pancreatitis. Recent data also showed its ability to normalize hepatic fat. Moving forward, analysts will be focused on three upcoming Phase 3 readouts, including the Lp(a) HORIZON trial of pelacarsen, which is testing the drug for reducing lipoprotein(a). Rare diseases Ionis Paves Its Own Path as Initial Tryngolza Launch Defies Expectations Long an R&D company that partnered off assets, RNAi biotech Ionis Pharmaceuticals shifted in 2025 to bring two medicines to market alone. Analysts are already impressed—and there’s more to come in 2026. February 18, 2026 · 3 min read · Annalee Armstrong Read more Ultragenyx 2Q performance: -1.33% Earnings date: TBD Ultragenyx has been through the wringer this year, witha high pro for a bone disease drug and an FDA rejection for a rare disease gene therapy. Heading into the third quarter, analysts are keenly watching for any details on a Phase 3 readout for apazunersen in Angelman syndrome, which could help turn the ship around. Jefferies anticipates peak worldwide sales of about $1.87 billion for the drug in 2036 if ultimately approved. Ultragenyx executives have had to make some tough decisions following the events of 2025, including implementing an expense reduction plan and layoffs . They also sold off two priority review vouchers that were awarded with the recent approvals of rare disease therapies Mepsevii and Crysvita. The biotech is awaiting two key regulatory decisions. Pariglasgene brecaparvovec, an AAV8 gene therapy, is under review for glycogen storage disease type 1a with an FDA action date of August 23. And rebisufligene etisparvovec, an AAV9 gene therapy, was accepted for priority review by the FDA with a decision date of September 19. Jefferies believes that both launches could be successful because there is unmet need in both indications. As for sales, Jefferies predicts Crysvita to come in between $500 and $520 million while Dojolvi could take home $100–110 million.

临床3期上市批准临床2期财报

2026-05-21

·征战罕见D研习室

#074：细胞垃圾站堵了，孩子的身体开始“变形”：读懂黏多糖贮积症 MPS

Bringing medical advances from the lab to the clinic. （👆，征战罕见病，我们一起努力。）根据卫健委公布的罕见病目录（共两批，207种），美国Healsan恒祥医学科技将持续对所有罕见病进行解读和大数据分析，以其能够为从事罕见病研究的生物制药公司、医生科学家及患者提供一些有用的信息。 👇对于罕见病患者来说，最难的就是第一时间找到合适的医生确诊和治疗；本专辑通过大数据分析找到对罕见病有研究的医生及医院的信息。（点击👆，获取研究罕见病的医生信息）导语｜一场从细胞深处开始的“拥堵事故” 有些病，最早看起来只是“长得慢一点”“脸型有点特别”“关节有点硬”“总爱打鼾”。几年后，孩子开始走路困难、手指伸不直、听力下降、角膜混浊、心脏瓣膜出问题，甚至认知和语言也被拖入漩涡。黏多糖贮积症，英文 Mucopolysaccharidosis，简称 MPS，像一场发生在细胞垃圾回收站里的拥堵事故：该被分解的糖胺聚糖越堆越多，身体的骨骼、眼睛、心肺、神经和肝脾都被迫“买单”。01｜身体里的“清运系统”停摆：表型、机制与发病率 MPS 是一组进行性、多系统受累的溶酶体贮积病，关键问题出在糖胺聚糖 GAGs 降解环节。中国罕见病诊疗指南资料写明，MPS 由降解 GAGs 的酶缺乏导致，未完全降解的黏多糖在溶酶体中贮积，可造成面容异常、神经系统受累、骨骼畸形、肝脾增大、心脏病变和角膜混浊；共分 7 型，涉及 11 个基因编码的 11 种溶酶体酶，除 MPS II 为 X 连锁隐性遗传外，其余多为常染色体隐性遗传。临床画面很“拼图”：粗面容、头大、巨舌、反复中耳炎、听力下降、角膜混浊、身材矮小、鸡胸、脊柱后凸、爪形手、关节僵硬、肝脾大、疝气、睡眠呼吸暂停、心瓣膜病、腕管综合征、脊髓压迫；MPS III 更突出行为异常和认知退行，MPS IV 常以骨骼畸形、短躯干和智力基本正常为特点。全球患病率因地区、族群、近亲婚配和筛查差异而波动，流行病学综述提示不同国家和地区差异明显，基因组数据库估算中各型最大患病率可从 0.46/10万到 7.1/10万不等。中国尚缺全国统一登记发病率，公开报告曾估算中国 MPS 患者超过一万人，部分调研也提示确诊难、误诊多、治疗负担重。 02｜研究黏多糖贮积症Mucopolysaccharidosis的大数据分析（2026) 我们针对该疾病做了基于SCI论文的大数据分析报告，通过分析SCI论文，找到该疾病临床科研中的中国专家。特别需要说明的是，该报告只是提供了针对特定疾病的临床科研水平突出的医生，欲进一步确定该医生的临床水平，请结合该医生所在医院同事、或者其他医院小同行的评价。另外，该报告仅限于使用的检索词范围内，具有局限性；且排序与临床水平无关。特别声明：本期为第一版，仅作抛砖引玉用；如果您发现推文有疏漏或者任何错误，请随时与文末的科研助手联系，我们会在第二版中更新。检索数据库：Medline 检索工具：Healsan™大数据检索及分析机构：Healsan LLC（美国恒祥医学科技）检索词：从2021/01/01截止目前，全球共发表该疾病研究论文1486篇，其中中国学者发表的论文数量为127篇。我们对中国学者在该领域发表的论文（包括合作论文）进行了大数据分析。（SCI论文的时间）研究最活跃的中国医院如果按照发表的SCI论文累计影响因子的次序，在该领域发表SCI论文累计影响因子最高的是台湾马偕纪念医院，发表了12篇该领域的研究论文；其他位居前列的医院依次为：台湾马偕纪念医院。四川大学华西医院。上海交通大学医学院附属新华医院。中山大学附属第三医院。中南大学湘雅医院。广州市妇女儿童医疗中心。浙江大学医学院附属儿童医院。首都医科大学附属北京妇产医院。首都医科大学附属北京友谊医院。北京协和医院。 (单位统计。备注：只统计第一作者的论文所在单位；即，论文检索下载后，每篇论文只保留第一作者的单位，然后统计每个单位的论文数。当同一单位有不同拼写时，PubMed会按照两个不同单位处理。) 最活跃的中国医学专家如果按照发表的SCI论文累计影响因子的次序，在该疾病研究中发表SCI论文累计影响因子最高的中国医生是魏文胜（Wei, Wensheng）单位：北京大学生物医学前沿创新中心、北京大学-清华大学生命科学联合中心、北京大学基因组编辑研究中心、北京大学生命科学学院、蛋白质与植物基因研究国家重点实验室、北京大学前沿交叉学科研究院。伊宗裔（Yi, Zongyi）单位：北京大学生物医学前沿创新中心、北京大学-清华大学生命科学联合中心、北京大学基因组编辑研究中心、北京大学生命科学学院、蛋白质与植物基因研究国家重点实验室。林炫沛（Lin, Shuanpei）单位：马偕纪念医院医学研究部遗传与代谢组、马偕纪念医院儿科、马偕纪念医院国际罕见疾病中心及生化遗传实验室、马偕医学大学医学系、国立台北护理健康大学婴幼儿保育系。李光业（Li, Guangye）单位：上海科技大学生命科学与技术学院基因编辑中心。陈佳（Chen, Jia）单位：上海科技大学生命科学与技术学院基因编辑中心、上海临床研究与试验中心。伊成器（Yi, Chengqi）单位：北京大学生命科学学院、蛋白质与植物基因研究国家重点实验室、北京大学-清华大学生命科学联合中心、北京大学化学与分子工程学院合成与功能生物分子中心、北京大学核糖核酸北京研究中心。罗楠（Luo, Nan）单位：北京大学生命科学学院、蛋白质与植物基因研究国家重点实验室。杨阳（Yang, Yang）单位：四川大学华西医院生物治疗全国重点实验室、四川大学华西医院眼科。张惠文（Zhang, Huiwen）单位：上海交通大学医学院附属新华医院。 Jin, Xiu 单位：四川大学华西医院生物治疗全国重点实验室、四川大学华西医院肿瘤中心、国家生物治疗协同创新中心。（该领域最活跃的研究者。备注：只统计第一作者和最后一位作者署名发表的论文数。如果作者的名字有不同拼写时，会被PubMed当成不同作者。如张三丰的拼写可能会有：Zhang,Sanfeng、Zhang,San-feng、或者Zhang,San Feng等不同拼写方式；部分期刊可能只会写Zhang,S，PubMed检索平台就会按照不同作者处理。）中国专注该疾病的医生学术圈如下所示。（中国医生科学家及其学术网） 03｜在中国，谁在给“黏宝宝”搭桥？中国的政策入口已经很清楚：2018 年，国家卫生健康委员会、科技部、工信部、国家药监局、国家中医药管理局联合发布《第一批罕见病目录》，黏多糖贮积症列入其中；2019 年，国家卫健委发布《罕见病诊疗指南（2019年版）》，目标是提高罕见病规范化诊疗水平、保障医疗质量和患者权益。就医层面，患者可优先寻找全国罕见病诊疗协作网相关医院，尤其是儿童遗传代谢科、儿科内分泌遗传代谢科、骨科、心内科、眼科、耳鼻喉科、康复科和麻醉科共同参与的中心。公益与非营利组织方面，专病组织中最应被看见的是北京正宇粘多糖罕见病关爱中心，该中心成立于 2012 年 7 月 19 日，由患者家长发起，宗旨是为粘多糖患者和家庭提供信息咨询与关怀救助，倡导社会关爱与政策关注。综合支持平台包括中国罕见病联盟/北京罕见病诊疗与保障学会、蔻德罕见病中心 CORD、北京病痛挑战公益基金会 ICF、中华社会救助基金会罕见病医疗援助工程、上海市罕见病防治基金会、北京康盟慈善基金会等。北京罕见病诊疗与保障学会联合大连医科大学开展过中国 MPS II 患者生存状况研究，收集 145 例问卷，提示患者生命质量低、经济负担重、临床需求未满足；北京康盟慈善基金会也于 2024 年启动“艾而绽放—黏多糖贮积症 I 型患者援助项目”，帮助符合条件的大陆 MPS I 患者减轻艾而赞®治疗费用负担。04｜药物与疗法：从“补酶”到“进脑”，下一站是基因治疗 MPS 药物开发的主线，可以理解为给细胞垃圾站补回缺失的“清运工”。已上市酶替代疗法 ERT 覆盖多个亚型：MPS I 的 Aldurazyme®/laronidase 由 BioMarin 与 Sanofi Genzyme 体系开发和商业化；MPS II 的 Elaprase®/idursulfase 由 Shire 开发，Shire 后并入 Takeda；MPS IVA 的 Vimizim®/elosulfase alfa、MPS VI 的 Naglazyme®/galsulfase 来自 BioMarin；MPS VII 的 Mepsevii®/vestronidase alfa 来自 Ultragenyx。ERT 可改善肝脾大、耐力、部分心肺和关节症状，长期短板也很现实：传统大分子酶难以穿过血脑屏障，对中枢神经退行性改变帮助有限。新一代研发开始向“大脑”进军：Denali Therapeutics 的 AVLAYAH™/tividenofusp alfa-eknm 于 2026 年 3 月获 FDA 加速批准，用于部分亨特综合征 MPS II 儿科患者神经系统表现，是首个利用转铁蛋白受体跨血脑屏障的 FDA 批准生物药；日本 JCR Pharmaceuticals 的 IZCARGO®/pabinafusp alfa 已在日本获批，用于 MPS II，并采用 J-Brain Cargo® 技术帮助药物进入中枢。中国可及性方面，北海康成引入并商业化海芮思®/艾度硫酸酯酶β，曾填补国内 MPS II 酶替代治疗空白。前沿赛道里，Ultragenyx 的 UX111/rebisufligene etisparvovec 正在推进 MPS IIIA AAV9 基因治疗；REGENXBIO 的 RGX-121 曾冲刺 MPS II 基因治疗，但 2026 年收到 FDA 完整回复函，说明基因治疗仍要穿过安全性、生产质量、替代终点和长期获益这几道关。结尾｜越早识别，越能把损伤挡在门外 MPS 最让人心疼的地方，是孩子出生时常常看起来正常，等到面容、骨骼、心肺、听力、视力或认知问题逐渐显形，很多损伤已经写进身体。真正值得记住的线索很具体：粗面容、关节僵硬、爪形手、反复疝气、肝脾大、角膜混浊、听力下降、打鼾、身材矮小、脊柱后凸、行为退行。疑似时尽快做尿 GAG、酶活性测定、基因检测和多系统评估；确诊后，把酶替代疗法、造血干细胞移植适应证、骨科和心肺风险、眼耳随访、康复、营养、遗传咨询、医保和公益援助一起纳入长期计划。罕见病的希望，常常从一次“多问一句”开始。声明： A, 本报告为PubMed检索平台仅以检索式报告的结果进行的可视化报告。 B, 大数据分析无任何排名意义。 C，本推文很可能存在谬误；也请各位同仁多多指正，以促进我们提供越来越高质量的推文。 D，如果您是从事该疾病临床诊治的医生，并希望更多人知道您，请把您的姓名、单位、出诊时间、及挂号方式发给科研助手；我们会集中收集后统一发布。请联系微信号Healsan E，本文仅为学术交流，不构成任何临床建议。 ▼ 本公众号由美国Healsan (恒祥医学科技)运营。投稿及商务联系Jason老师；微信号：hanson-006；提供特惠码：MELT99，可以获得优惠。美国Healsan专长于Healsan医学大数据分析（Healsan™）、及基于大数据的Hanson临床科研服务（HansonCR™）和医学编辑服务（MedEditing™）。主要为医生科学家、生物制药公司和医院科研处等提供文献计量分析和SCI论文润色、编辑、选刊等服务，成为诸多机构的“临床科研外挂”。网址： https://healsan.com/ （👆，征战罕见病，我们在行动！） ▼ Healsan医路成长更多免费资源：（点击👆图片，进入自己感兴趣的专辑。或点击“资源”，浏览本公众号所有资源）

2026-05-06

·BioSpace

Ultragenyx Reports First Quarter 2026 Financial Results and Corporate Update

First quarter total revenue of $136 million, Crysvita® revenue of $93 million and Dojolvi® revenue of $18 million Reaffirm 2026 financial guidance, including total revenue of $730 million to $760 million and combined R&D and SG&A expenses to be flat to slightly down versus 2025; remain on path to profitability in 2027 GTX-102 for Angelman syndrome: New longer-term data from Phase 1/2 clinical study support durable and improving effects across multiple domains; Phase 3 data expected in the second half of 2026 NOVATO, Calif., May 05, 2026 (GLOBE NEWSWIRE) -- Ultragenyx Pharmaceutical Inc. (NASDAQ: RARE), a biopharmaceutical company focused on the development and commercialization of novel therapies for serious rare and ultra-rare genetic diseases, today reported its financial results for the quarter ended March 31, 2026 and reaffirmed its financial guidance for 2026. “This is an important year for Ultragenyx with two BLAs under review and our Angelman Phase 3 readout coming soon. We have the opportunity to meaningfully accelerate our consistent commercial revenue growth over the last few years as we prepare for two potential gene therapy approvals and launches in two urgent diseases without any approved therapies,” said Emil D. Kakkis, M.D., Ph.D., chief executive officer and president of Ultragenyx. “The latest long-term GTX-102 Phase 1/2 data further support the potential of the program, as it heads toward Phase 3 results later this year.” First Quarter 2026 Revenue Highlights and 2026 Revenue Guidance Total revenue in the first quarter of 2026 was $136 million. The company reaffirms its full year 2026 total revenue guidance of $730 million to $760 million, which excludes revenue from potential new product launches. Crysvita revenue in the first quarter of 2026 was $93 million, consistent with expected seasonality in the U.S. and Canada and ordering patterns in Brazil. The company reaffirms its full year 2026 Crysvita revenue guidance of $500 million to $520 million. Dojolvi revenue in the first quarter 2026 was $18 million. The company reaffirms its full year 2026 Dojolvi revenue guidance of $100 million to $110 million. Evkeeza® revenue in the first quarter 2026 was $18 million, driven by increased demand from new country launches and early access. Mepsevii® revenue in the first quarter 2026 was $7 million. Recent Clinical Milestones and 2026 Catalysts GTX-102 (apazunersen) antisense oligonucleotide (ASO) for the treatment of Angelman syndrome (AS): As of a March 2026 Phase 1/2 data cut-off date, a total of 74 patients had been treated with GTX-102, with 66 patients continuing in the long-term extension (LTE) study. Phase 1/2 patients have been on continuous treatment for an average of more than three years, with some patients now in their fifth year, generally receiving the 14 mg quarterly maintenance dose. Patients have continued to show positive improvements across multiple domains and continued to gain ground developmentally. GTX-102 has maintained a consistent safety profile, sustained over multiple years of chronic treatment, while demonstrating no new cases of transient lower extremity weakness nor any other recurring drug-related serious adverse events. These updated efficacy and safety data are planned to be presented at a future scientific meeting. The Phase 3 Aspire study, in patients with a full maternal UBE3A gene deletion, enrolled 129 patients, randomized 1:1 to GTX-102 or sham. Data from this study are expected in the second half of 2026. Enrollment in the open-label Phase 2/3 Aurora study, evaluating GTX-102 in other genotypes and ages, began enrollment in October 2025 and is expected to complete enrollment in the second half of 2026. DTX401 (pariglasgene brecaparvovec) AAV8 gene therapy for the treatment of glycogen storage disease type Ia (GSDIa): In February 2026, the U.S. Food and Drug Administration (FDA) accepted for review the Biologics License Application (BLA) seeking approval of DTX401 as a treatment for GSDIa, granted the BLA Priority Review, and assigned a Prescription Drug User Fee Act (PDUFA) action date of August 23, 2026. The FDA also recently informed the company that an Advisory Committee meeting is not anticipated at this time. UX111 (rebisufligene etisparvovec) AAV9 gene therapy for the treatment of Sanfilippo syndrome type A (MPS IIIA): In April 2026, the FDA accepted for review the resubmitted BLA seeking accelerated approval for UX111 as a treatment for MPS IIIA. The resubmitted BLA included substantial longer-term data that were presented in February at the WORLD Symposium™ 2026 and included up to eight years of follow-up. These data demonstrated further clinical improvement relative to the decline observed in natural history studies, and showed a durable treatment effect across clinical evaluations and multiple biomarkers, while maintaining an acceptable safety profile. In February 2025, the FDA granted the BLA Priority Review and, in April 2026, assigned a PDUFA action date of September 19, 2026. DTX301 (avalotcagene ontaparvovec) AAV8 gene therapy for the treatment of Ornithine Transcarbamylase, or OTC, deficiency: As announced in March 2026, at Week 36 in the randomized, double-blind placebo-controlled period of the Phase 3 study, DTX301 patients (n=18) demonstrated a statistically significant and clinically meaningful 18% (p=0.018) reduction in 24-hour plasma ammonia (AUC 0-24 ) into the normal range compared to placebo (n=19). Eight of nine patients with abnormal ammonia AUC 0-24 at baseline also reached normal ammonia levels rapidly, which were generally maintained during this treatment period. At Week 24, patient global impression scale (PGIC) for overall OTC symptoms (n=15) showed 71% of DTX301 patients were much improved (equivalent to +3), compared to 0% of placebo patients. DTX301 was well tolerated with an acceptable safety profile. Per the protocol, the study is continuing to its second primary endpoint, which evaluates reduction in treatment burden, including use of ammonia scavengers and dietary management, across both the treatment and placebo-crossover groups following treatment with DTX301 through 64 weeks of follow-up. Data are expected in the first half of 2027. UX701 (rivunatpagene miziparvovec) AAV9 gene therapy for the treatment of Wilson disease: Enrollment is complete for the fourth cohort in the ongoing, dose-finding stage of the pivotal Cyprus2+ study. Data from this stage are expected in 2026. UX016 novel prodrug for sialic acid used as a substrate replacement therapy for the treatment of GNE myopathy: The FDA cleared the Investigational New Drug (IND) application for UX016 and an externally funded Phase 1/2 study is expected to begin in the second half of 2026. Summary of First Quarter 2026 Financial Results Selected Financial Data (dollars in millions, except per share amounts), (unaudited) Three Months Ended March 31, 2026 2025 Total revenues $ 136 $ 139 Operating expenses: Cost of sales 30 29 Research and development 187 166 Selling, general and administrative 88 87 Total operating expenses 305 282 Net loss $ (185 ) $ (151 ) Net loss per share, basic and diluted $ (1.84 ) $ (1.57 ) Operating Expenses Total operating expenses for the first quarter 2026 were $305 million, including $30 million of non-cash stock-based compensation and $30 million of expense related to the restructuring announced last quarter. The company reaffirms its full year 2026 and 2027 guidance for combined R&D and SG&A operating expenses: compared to 2025, combined R&D and SG&A expenses in 2026 are expected to be flat to down low-single digits, and combined R&D and SG&A expenses in 2027 are expected to decrease by at least 15%. Net Loss Net loss for the first quarter 2026 was $185 million, or $1.84 per share basic and diluted, compared with a net loss for the first quarter 2025 of $151 million, or $1.57 per share basic and diluted. Cash Balance and Net Cash Used in Operations Cash, cash equivalents, and marketable securities were $534 million as of March 31, 2026. For the three months ended March 31, 2026, net cash used in operations was $197 million and includes the payment of annual bonuses and $38 million of payments related to UX143 manufacturing activities. Conference Call and Webcast Information Ultragenyx will host a conference call today, Tuesday, May 5, 2026, at 2 p.m. PT/5 p.m. ET to discuss the first quarter financial results and provide a corporate update. The live and replayed webcast of the call will be available through the company’s website at . The replay of the call will be available for three months. About Ultragenyx Ultragenyx is a biopharmaceutical company committed to bringing novel therapies to patients for the treatment of serious rare and ultra-rare genetic diseases. The company has built a diverse portfolio of approved medicines and treatment candidates aimed at addressing diseases with high unmet medical need and clear biology, for which there are typically no approved therapies treating the underlying disease. The company is led by a management team experienced in the development and commercialization of rare disease therapeutics. Ultragenyx’s strategy is predicated upon time- and cost-efficient drug development, with the goal of delivering safe and effective therapies to patients with the utmost urgency. For more information on Ultragenyx, please visit the company's website at: . Forward-Looking Statements and Use of Digital Media Except for the historical information contained herein, the matters set forth in this press release, including statements related to Ultragenyx's expectations and projections regarding its future operating results and financial performance, including the company’s expectations for profitability in 2027, anticipated cost or expense reductions, including the company’s expectations related to benefits and savings from the strategic restructuring plan, the timing, progress and plans for its clinical programs and clinical studies, future regulatory interactions, the components and timing of regulatory submissions, the company’s ability to provide the requested documentation and address the comments in the CRL for UX111 to the satisfaction of the FDA, the timing of FDA review of the company’s BLA submissions, the timing and outcome of any FDA inspections related to UX111 or other clinical product candidates, the timing of future regulatory interactions related to the company’s clinical product candidates are forward-looking statements within the meaning of the "safe harbor" provisions of the Private Securities Litigation Reform Act of 1995. Such forward-looking statements involve substantial risks and uncertainties that could cause the company’s clinical development programs, commercial success of its products and product candidates, continued collaboration with third parties, future results, performance or achievements to differ significantly from those expressed or implied by the forward-looking statements. Such risks and uncertainties include, among others, the uncertainty of clinical drug development and unpredictability and lengthy process for obtaining regulatory approvals, risks related to serious or undesirable side effects of our product candidates, the company’s ability to achieve its projected development goals in its expected timeframes, risks related to reliance on third party partners to conduct certain activities on the company’s behalf, our limited experience in generating revenue from product sales, risks related to product liability lawsuits, our dependence on Kyowa Kirin for the commercialization of Crysvita in certain major markets, including the U.S. and Canada, and for our commercial supply of Crysvita in those markets, fluctuations in buying or distribution patterns from distributors and specialty pharmacies, smaller than anticipated market opportunities for the company’s products and product candidates, manufacturing risks, our ability to successfully manage the expansion of our company, delays or unexpected costs and other adverse effects related to the strategic restructuring plan, competition from other therapies or products, regulatory scrutiny of the company’s products and product candidates, the company’s limited experience as a company in operating its own manufacturing facility, market acceptance of our products, uncertainty related to insurance coverage and reimbursement, and other matters that could affect sufficiency of existing cash, cash equivalents and short-term investments to fund operations, the company’s future operating results and financial performance, the timing of clinical trial activities and reporting results from same, and the availability or commercial potential of Ultragenyx’s products and drug candidate. Ultragenyx undertakes no obligation to update or revise any forward-looking statements. For a further description of the risks and uncertainties that could cause actual results to differ from those expressed in these forward-looking statements, as well as risks relating to the business of Ultragenyx in general, see Ultragenyx's Annual Report on Form 10-K filed with the Securities and Exchange Commission (SEC) on February 18, 2026, and its subsequent periodic reports filed with the SEC. In addition to its SEC filings, press releases and public conference calls, Ultragenyx uses its investor relations website and social media outlets to publish important information about the company, including information that may be deemed material to investors, and to comply with its disclosure obligations under Regulation FD. Financial and other information about Ultragenyx is routinely posted and is accessible on Ultragenyx’s Investor Relations website ( ) and LinkedIn website ( ) . Contacts Ultragenyx Pharmaceutical Inc. Investors Joshua Higa ir@ultragenyx.com Media Jess Rowlands media@ultragenyx.com Ultragenyx Pharmaceutical Inc. Selected Revenue Data (in millions) (unaudited) Three Months Ended March 31, 2026 2025 Crysvita Product sales - Latin America and Türkiye $ 46 $ 55 Royalty revenue - U.S. and Canada 39 41 Royalty revenue - Europe 8 7 Total Crysvita Revenue 93 103 Dojolvi 18 17 Evkeeza 18 11 Mepsevii 7 8 Total revenues $ 136 $ 139 Ultragenyx Pharmaceutical Inc. Selected Statement of Operations Financial Data (in millions, except per share amounts) (unaudited) Three Months Ended March 31, 2026 2025 Statement of Operations Data: Revenues: Product sales $ 89 $ 91 Royalty revenue 47 48 Total revenues 136 139 Operating expenses: Cost of sales 30 29 Research and development 187 166 Selling, general and administrative 88 87 Total operating expenses 305 282 Loss from operations (169 ) (143 ) Non-cash interest expense on liabilities for sales of future royalties (21 ) (14 ) Other income, net 6 7 Loss before income taxes (184 ) (150 ) Provision for income taxes (1 ) (1 ) Net loss $ (185 ) $ (151 ) Net loss per share, basic and diluted $ (1.84 ) $ (1.57 ) Shares used in computing net loss per share, basic and diluted 100.6 96.3 Ultragenyx Pharmaceutical Inc. Selected Activity included in Operating Expenses (in millions) (unaudited) Three Months Ended March 31, 2026 2025 Non-cash stock-based compensation $ 30 $ 40 Restructuring expense $ 30 — Ultragenyx Pharmaceutical Inc. Selected Balance Sheet Financial Data (in millions) (unaudited) March 31, December 31, 2026 2025 Balance Sheet Data: Cash, cash equivalents, and marketable securities $ 534 $ 737 Working capital 332 567 Total assets 1,296 1,532 Total stockholders' equity (deficit) (236 ) (80 )

临床3期临床结果财报基因疗法

100 项与 Vestronidase Alfa-VJBK 相关的药物交易

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外链

KEGG	Wiki	ATC	Drug Bank
-	Vestronidase Alfa-VJBK	A16AB18	DB12366

研发状态

10 条最早获批的记录,

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适应症	国家/地区	公司	日期
粘多糖累积病Ⅶ型	美国	Ultragenyx Pharmaceutical, Inc.	2017-11-15

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临床结果

适应症

分期

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研究	分期	人群特征	评价人数	分组	结果	评价	发布日期


NCT02418455 (Pubmed \| Mol Genet Metab)	临床2期	粘多糖累积病Ⅶ型 uGAG DS excretion	8	Vestronidase alfa 4 mg/kg	範淵憲壓壓糧襯壓築築(鏇獵鑰構構醖遞願襯獵) = 艱齋鏇壓憲淵範顧鏇積襯鏇範製夢憲遞鹹夢選 (獵襯積鹽繭艱壓夢獵獵 )	积极	2022-05-01
NCT02418455 (CTgov)	临床2期	粘多糖累积病Ⅶ型	8	UX003	願餘鹽糧構窪範醖獵膚(淵膚襯觸夢顧範範淵襯) = 鑰鏇餘膚網製鏇觸襯鹹顧積鑰衊願獵積餘餘願 (齋網簾鹽構襯範糧夢觸, 16.915) 更多	-	2019-10-16
NCT02432144 (CTgov)	临床3期	粘多糖累积病Ⅶ型	12	UX003	憲製範願淵齋鹽顧鑰簾 = 願糧鏇鬱顧鹽衊衊衊壓糧衊糧膚窪衊廠艱襯構 (簾築壓夢鹹願淵衊窪鑰, 鑰範遞衊獵膚願願憲糧 ~ 鏇範衊築醖觸遞膚鹹繭) 更多	-	2019-07-30
NCT02230566 (Pubmed \| Mol Genet Metab) 人工标引	临床3期	粘多糖累积病Ⅶ型	12	vestronidase alfa	獵膚醖繭構蓋觸積衊廠(壓夢鹹襯鏇淵淵築繭觸) = 糧艱願築襯壓鏇蓋壓餘鹹壓壓積願夢膚糧簾糧 (窪蓋願顧廠築鹹繭繭衊 ) 更多	积极	2018-04-01
NCT02230566 (CTgov)	临床3期	粘多糖累积病Ⅶ型	12	UX003 (UX003 4 mg/kg)	鹹鏇遞網齋鹽顧遞鑰鬱(廠蓋憲簾餘糧憲積窪醖) = 襯網鏇積觸獵簾網選壓顧鬱鑰艱膚網襯襯憲觸 (糧獵襯製醖構鏇壓餘願, 2.468) 更多	-	2018-02-19
NCT02230566 (CTgov)	临床3期	粘多糖累积病Ⅶ型	12	placebo (Placebo)	壓製製獵鹽網壓遞廠遞(壓範窪窪鑰觸衊蓋窪鬱) = 構顧衊糧顧鬱窪顧構願衊選窪鏇繭繭鬱鬱蓋蓋 (糧糧簾醖製鹽廠餘築鑰, 鑰衊鑰鏇製選構廠鬱齋 ~ 構鏇築壓餘選鹹壓襯遞) 更多	-	2018-02-19
NCT01856218 (CTgov)	临床1/2期	粘多糖累积病Ⅶ型	3	UX003	夢製衊遞簾餘構繭蓋艱(夢築觸壓顧糧鬱遞構糧) = 製觸積蓋壓構選襯顧齋選簾襯憲網製鬱製鹽窪 (膚範製憲夢範夢蓋鬱夢, 7.895) 更多	-	2018-01-05