A Phase II, Escalating Dose, Open Label Study to Evaluate the Safety of Triheptanoin for the Prevention of Hypoglycemia in Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

This is a medical research study to test a medication in adult patients with a disease called medium-chain acyl-CoA dehydrogenase deficiency (MCADD). The medication is triheptanoin, which is currently FDA approved for the treatment of Long-Chain Fatty Acid Oxidation Disorders. Previous research suggests that triheptanoin may also be effective in the treatment MCADD. This study will investigate the safety and efficacy (how well it works) of triheptanoin in patients with MCADD.

开始日期2026-08-01

申办/合作机构

University of Pittsburgh

[+1]

NCT07097311

/ Withdrawn临床2期IIT

A Phase II, Open Label Study to Evaluate the Safety of Triheptanoin for the Prevention of Hypoglycemia in Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

This is a medical research study to test a medication in patients 4 years of age and older with a disease called medium-chain acyl-CoA dehydrogenase deficiency (MCADD). The medication is triheptanoin, which is currently FDA approved for the treatment of long chain fatty acid oxidation disorders (FAODs). Previous research suggests that triheptanoin may also be effective in the treatment MCADD. This study will investigate the safety and efficacy (how well it works) of triheptanoin patients with MCADD.

开始日期2026-07-01

申办/合作机构

University of Pittsburgh

[+1]

NCT06340685

/ Recruiting临床1期IIT

An Open Label, Exploratory, Proof-of Concept Study of Triheptanoin as Treatment for Patients With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency

This is a medical research study to test a medication in patients with a disease called Pyruvate Dehydrogenase Complex (PDC) Deficiency. The medication is triheptanoin, which is currently FDA approved for the treatment of Long-Chain Fatty Acid Oxidation Disorders. Previous research suggests that triheptanoin may also be effective in the treatment PDC Deficiency. This study will investigate the safety and efficacy (how well it works) of triheptanoin in patients with PDC Deficiency.

开始日期2024-07-11

申办/合作机构

University of Pittsburgh

[+1]

100 项与三庚酸甘油酯相关的临床结果

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100 项与三庚酸甘油酯相关的转化医学

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100 项与三庚酸甘油酯相关的专利（医药）

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项与三庚酸甘油酯相关的文献（医药）

2026-06-01·ACTA NEUROLOGICA BELGICA

Biallelic RNU2-2–related neurodevelopmental disorder presenting as Lennox-Gastaut syndrome

Letter

作者: Samanta, Debopam

Lennox-Gastaut syndrome (LGS) represents a severe developmental and epileptic encephalopathy(DEE) with heterogeneous etiologies. Despite advances in genomic medicine, a substantial proportion of patients remain without molecular diagnosis. RNU2-2, encoding a core spliceosome component, has recently emerged as a cause of severe neurodevelopmental disorders through both dominant and recessive inheritance patterns. We report a 14-year-old male with a decade-long undiagnosed DEE characterized by developmental delays from 6 months, multiple seizure types beginning at 15 months, progressive dystonia, spasticity, and microcephaly. Initial investigations suggested Glucose Transporter 1 (GLUT1) deficiency based on low cerebrospinal fluid glucose and diffuse cerebral hypometabolism on positron emission tomography, but SLC2A1 sequencing was negative and therapeutic trials with ketogenic diet and triheptanoin proved ineffective. His seizures evolved to fulfill LGS diagnostic criteria with electroencephalography demonstrating generalized slow spike-waves and generalized paroxysmal fast activity. Despite multiple genetic evaluations including microarray and whole genome sequencing, no diagnosis was established until enrollment in the Undiagnosed Diseases Network revealed compound heterozygous RNU2-2 variants: n.100T > G (maternal) and n.116_127del (paternal). This case represents one of the first reports of autosomal recessive RNU2-2-related neurodevelopmental disorder presenting as LGS. It illustrates the diagnostic challenge of metabolic phenocopies and highlights the critical importance of analyzing non-coding RNA genes in undiagnosed DEEs. Recognition of RNU2-2-related disorders expands the genetic landscape of LGS and emphasizes the value of systematic genomic reanalysis in patients without molecular diagnosis despite conventional testing.

2026-01-01·JOURNAL OF INHERITED METABOLIC DISEASE

Elamipretide Improves Mitochondrial Function in Mitochondrial Trifunctional Protein‐Deficient Mice and Human Fibroblasts

Article

作者: Austin J. Szuminsky ; Anuradha Karunanidhi ; Shakuntala Basu ; Lethicia Ferraro ; Meicheng Wang ; Jerry Vockley ; Xuejun Zhao ; Eduardo Vieira Neto ; Yudong Wang

ABSTRACT:

Mitochondrial trifunctional protein (TFP) deficiency is an inherited disorder of long‐chain fatty acid β‐oxidation (FAO). TFP is a heteromeric enzyme composed of two α and two β‐subunits. Despite early detection and dietary treatment, TFP deficiency patients often develop hypoglycemia, rhabdomyolysis, cardiomyopathy, and peripheral neuropathy. Degenerative retinopathy and milder peripheral neuropathy occur in patients with an isolated deficiency of the αTFP subunit of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase (LCHAD) activity. Triheptanoin treatment improves most complications, but not peripheral neuropathy and retinopathy. Notably, TFP also carries a fourth enzymatic function involved in cardiolipin remodeling, which we previously found to be impaired in TFP/LCHAD deficiency. We therefore tested whether elamipretide, a synthetic cardiolipin‐binding peptide, could improve mitochondrial function and cardiolipin levels in βTFP‐deficient mice and patient‐derived fibroblasts. Mice were treated with elamipretide delivered by osmotic minipump and challenged with treadmill exercise or cold stress after fasting. βTFP‐deficient mice treated with elamipretide showed improved exercise endurance, but cold tolerance was not altered. Liver mitochondria from male βTFP‐deficient mice demonstrated improved FAO‐ETC enzyme activities. However, cardiolipin content and composition were unchanged. In patient fibroblasts, elamipretide produced a possible genotype‐dependent increase in mitochondrial bioenergetics and a reduction in ROS. These results support a mechanism in which elamipretide stabilizes between FAO enzymes and ETC complexes, thereby improving mitochondrial function independently of changes in cardiolipin levels. Elamipretide thus emerges as a potential therapeutic agent for TFP/LCHAD deficiency, warranting further preclinical studies.

2025-12-01·Molecular Genetics and Metabolism Reports

Mitochondrial dysfunction in methylmalonic acidemia: A pilot study using Seahorse technology in peripheral blood

Article

作者: Andrade, Fernando ; Aldamiz-Echevarria, Luis ; Bélanger-Quintana, Amaya ; Couce, Maria-Luz ; Villate, Olatz ; Arrieta, Francisco ; Stanescu, Sinziana ; Gonzalez-Lamuño, Domingo ; Muriel, Alfonso

Introduction:

Isolated methylmalonic acidemia (MMA) is an inborn error of metabolism due to the deficiency of the methylmalonic mutase enzyme. Many patients develop chronic complications such as basal ganglia lesions or kidney impairment. A growing body of evidence supports secondary mitochondrial dysfunction as the main cause for the development of these long-term complications, even in patients with good metabolic control. Currently, available methods to study mitochondrial function are often invasive, such as muscular or skin biopsy.

Objectives:

This pilot study is aimed to develop a safe, non-invasive method to assess mitochondrial and glycolytic function in isolated MMA patients using lymphocytes.

Materials and methods:

Mitochondrial bioenergetics and glycolysis were evaluated in lymphocytes from two mut ⁰ MMA patients and two age- and sex-matched controls using Seahorse technology. In vitro treatments with triheptanoin, citrate, and resveratrol were performed.

Results:

MMA lymphocytes showed significant impairment in mitochondrial respiration and glycolysis compared to healthy controls. Triheptanoin exposure improved ATP production and glycolytic flux (ECAR), but no significant changes were observed in oxygen consumption (OCR). Citrate and resveratrol had no measurable impact on bioenergetic parameters.

Conclusions:

This exploratory study suggests that Seahorse technology can detect mitochondrial dysfunction in MMA lymphocytes. Further studies in larger cohorts are required to validate these findings and explore their clinical relevance.

项与三庚酸甘油酯相关的新闻（医药）

2026-09-20

·磐研智库

Ultragenyx，把首个FDA的MPS IIIA基因针炼成可负担路

来源：磐研智库编辑：元彦泓舟积土成山，风雨兴焉。2010年Emil Kakkis在加州Novato创办Ultragenyx，专攻无药罕见病，2014年登纳市RARE。已上市产品按modality分四块，生物药有XLH的Crysvita、HoFH的Evkeeza，小分子/底物替代有脂肪酸氧化病Dojolvi，酶替代有MPS VII的Mepsevii，基因与核酸单列两条独立线，AAV体内基因替代归一路，ASO反义核酸归一路。 2026年9月17日FDA标准完全批准FAYUVI，代号UX111，首个获FDA批准的MPS IIIA、即Sanfilippo A型基因治疗，单次静脉AAV9递送正常SGSH，降解蓄积硫酸乙酰肝素、延缓儿童脑退化，海外WAC定价395万美元。同一技术周期里，国内信念医药用按体重给药和惠民保，把另一款AAV产品信玖凝的自付压到百万内，跑通中国市场的可负担样本。从加州开出天价首针，到天津落地AAV首方，基因治疗正被中美两家公司分别推过科学与支付两道门。01395万美元获批先过证据与产线关 FAYUVI用改造后无感染性AAV9载体，单次静脉输注，把功能型SGSH基因送入细胞，恢复磺酰胺酶、降脑脊液硫酸乙酰肝素。 MPS IIIA因SGSH双等位突变致酶缺，糖胺聚糖在溶酶体堆积、尤其伤脑，儿童认知语言运动逐步退化，商业可及人群约3000到5000人，中位生存约15年。关键Transpher A为开放标签单臂，改良意向17例对外部自然史27例，24至60月龄Bayley-III认知原始分高23.5分、p小于0.0001，脑脊液硫酸乙酰肝素多数组降幅超五成，长期随访近8年。美国批发采购价WAC定395万美元，属高价一次性基因疗法档。公司获孤儿药、快速通道、突破性疗法、优先审评等资格，2025年7月因CMC与厂房检查收完整回复函，2026年重交BLA转标准完全批准，并用了一张优先审评券。这是Ultragenyx第二次基因疗法批准。天价能补酶，却先把保险公司、Medicaid和合格治疗中心支付设计逼到台前。02Kakkis与AAV9 从酶缺补到中枢 Kakkis做黏多糖与罕见病政策出身，公司不把ASO并入基因治疗。AAV基因替代线列UX111（MPS IIIA，AAV9-SGSH，已完全批准）、GENGLYCOS（GSD Ia，AAV8-G6Pase，2026年8月获FDA加速批准）、DTX301（OTC缺乏，AAV8，推进中）、UX701（Wilson，AAV9-ATP7B，Cyprus2+剂量探索、2026年四季度等数据）。 ASO线单列GTX-102（Angelman，抑制UBE3A-ATS、鞘内，三期Aspire等推进）。 UX111早期以ABO-102由Abeona推进，后转Ultragenyx做后期注册。 AAV9价值不在新，而在系统给药后具有一定中枢可达性，静脉输完由细胞表达磺酰胺酶，分泌后被神经元摄取，把溶酶体底物通路重新拧开。安全盯肝毒、血小板减少、血栓性微血管病、输液反应，常见肝酶升高、呕吐、发热、白细胞下降。输注前后用皮质激素管理免疫。超罕见病怕有机制没产能，CMC与合格治疗中心一起铺，酶学才从实验室转成可发药。03信念降自付按体重给药破首方国内对照看信念医药，与FAYUVI不同病种、同属AAV基因替代路径。信玖凝通用名波哌达可基、代码BBM-H901，已在中国大陆和澳门获批，2025年4月NMPA优先审评获批中重度血友病B成人，单次静脉递送优化凝血IX基因，让肝细胞持续表达FIX、替代长期注射。定价每瓶9.3万元、按体重给药，70公斤级约用44瓶；初期慈善援助后自付上限279万元，2026年6月降至139万元内。8月24日天津开出全国首张商业处方。北京、上海、重庆、江西、淄博、肇庆惠民保接续，叠加慈善后自付可进一步降低。2026年8月2日终止与武田中国商业化合作，改为信念自主推进。海外靠高定价摊研发，国内靠按体重精算、自付封顶和惠民保摊支付。AAV可及不只看载体产率，也看谁埋单、怎样报销。04峰值两亿五中外走两条支付曲线机构给FAYUVI全球峰值约2到2.5亿美元，体量受超罕人群和一次性收费限制。美国用UltraCare和合格治疗中心做准入，试按疗效、分期、年金、结果退款。国内反着来，罕见病支付天花板低，企业不能抄高定价高返利，只能把单患者自付、适应证拓展和商保惠民保绑定。信玖凝之后，信念A型血友病、DMD等AAV项目横向铺。海外证明AAV9可进脑、可拿MPS IIIA标准完全批，国内证明按体重AAV可降价、可进惠民保。千方既济，一路同轨，基因治疗真正落地的两道门，一是临床证据，二是支付设计。 Ultragenyx用AAV9补SGSH、拿首个FDA的MPS IIIA完全批，解决无药。信念用按体重给药和自付封顶，解决用得起。前者把科学边界推到中枢神经，后者把产业边界推到规模支付。它不像小分子拼管线数量，也不像纯Biotech只讲临床，卡在载体、工艺和支付设计中间最吃硬功夫。本文根据Ultragenyx 2026年9月17日FAYUVI批准通报、官网管线、2026Q2季报、GENGLYCOS获批信息、Transpher A公开数据、信念医药官网及信玖凝定价/天津首方/惠民保公开材料整理归纳，仅供行业交流，不作为投资、立项或诊疗决策依据。磐研智库及运营方对引用内容产生的损益不承担责任。 Ultragenyx#FAYUVI#UX111#MPSIIIA#SanfilippoA#AAV9#SGSH#395万美元WAC#信念医药#信玖凝#BBMH901#GENGLYCOS#GTX102#把首个FDA的MPSIIIA基因针炼成可负担路

2026-08-04

·ir.ultragenyx.com

Ultragenyx Reports Second Quarter 2026 Financial Results and Corporate Update

Second quarter total revenue of $214 million, Crysvita® revenue of $156 million and Dojolvi® revenue of $27 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 Catalysts in second half of 2026 include two PDUFA dates and pivotal data readout from GTX-102 Phase 3 Aspire study for Angelman syndrome NOVATO, Calif., Aug. 04, 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 June 30, 2026 and reaffirmed its financial guidance for 2026. “In the second quarter we generated the highest quarterly revenue in the history of the company, supporting our full-year revenue guidance, and keeping us on track toward profitability in 2027,” said Emil D. Kakkis, M.D., Ph.D., chief executive officer and president of Ultragenyx. “As we look to the second half of the year, we are entering a transformative period with multiple important catalysts. We are ready to launch two gene therapy products and are preparing for a pivotal Phase 3 GTX-102 data readout in Angelman syndrome. This puts us in position to broaden our patient impact with sustained growth in the years to come.” Second Quarter 2026 Revenue Highlights and 2026 Revenue Guidance Total revenue in the second quarter of 2026 was $214 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 second quarter of 2026 was $156 million, consistent with expected seasonality in the U.S. and Canada and ordering patterns in Latin America. The company reaffirms its full year 2026 Crysvita revenue guidance of $500 million to $520 million. Dojolvi revenue in the second quarter 2026 was $27 million. The company reaffirms its full year 2026 Dojolvi revenue guidance of $100 million to $110 million. Evkeeza® revenue in the second quarter 2026 was $21 million, driven by increased demand from new country launches and early access. Mepsevii® revenue in the second quarter 2026 was $10 million. Milestones and Upcoming Catalysts Dojolvi for the treatment of LC-FAOD: In May 2026, Dojolvi was listed on the National Health Insurance (NHI) drug price list and was launched in Japan following the receipt of manufacturing and marketing approval under the Conditional Approval System for Pharmaceuticals on March 23, 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 and assigned a Prescription Drug User Fee Act (PDUFA) action date of August 23, 2026. 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 and assigned a PDUFA action date of September 19, 2026. GTX-102 (apazunersen) antisense oligonucleotide (ASO) for the treatment of Angelman syndrome (AS): 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 September or October timeframe. Enrollment in the open-label Phase 2/3 Aurora study, evaluating GTX-102 in other genotypes and ages, began in October 2025 and is expected to complete in the second half of 2026. 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 the fourth quarter of 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. DTX301 (avalotcagene ontaparvovec) AAV8 gene therapy for the treatment of Ornithine Transcarbamylase, or OTC, deficiency: The Phase 3 Enh3ance study continues with patients in both treatment and cross-over groups progressing through 64 weeks of follow-up. Data from the second primary endpoint, which evaluates reduction in treatment burden, including use of ammonia scavengers and dietary management, are expected in the first half of 2027. Summary of Second Quarter 2026 Financial Results Selected Financial Data (dollars in millions, except per share amounts), (unaudited) Operating Expenses Total operating expenses for the second quarter 2026 were $289 million, including $34 million of non-cash stock-based compensation. 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 second quarter 2026 was $92 million, or $0.90 per share basic and diluted, compared with a net loss for the second quarter 2025 of $115 million, or $1.17 per share basic and diluted. Cash Balance and Net Cash Used in Operations Cash, cash equivalents, and marketable securities were $436 million as of June 30, 2026. For the three months ended June 30, 2026, net cash used in operations was $97 million. Conference Call and Webcast Information Ultragenyx will host a conference call today, Tuesday, August 4, 2026, at 2 p.m. PT/5 p.m. ET to discuss the second 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 https://ir.ultragenyx.com/events-presentations. 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: www.ultragenyx.com. 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 regarding Ultragenyx’s expectations and projections concerning its future operating results and financial performance, including its 2026 revenue guidance for total revenue, Crysvita and Dojolvi, its anticipated R&D and SG&A expenses in 2026 and 2027, anticipated benefits and savings from its strategic restructuring plan, and the timing and sustainability of profitability; the timing, progress, results and plans for its clinical programs and studies, including the anticipated timing and outcome of the Phase 3 Aspire study of GTX-102, enrollment in the Aurora study, data from the UX701 and DTX301 studies, and initiation of the UX016 study; the FDA’s review of the BLAs for DTX401 and UX111, including the anticipated PDUFA action dates, the potential approval of either product candidate, whether the FDA may require additional information, studies or manufacturing changes, and the timing and outcome of regulatory inspections; Ultragenyx’s manufacturing and commercial readiness and the timing and success of any potential launches of DTX401 and UX111, if approved; and the potential patient impact, commercial opportunity and growth associated with Ultragenyx’s products and 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 Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission (SEC) on May 6, 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 (https://ir.ultragenyx.com/) and LinkedIn website (https://www.linkedin.com/company/ultragenyx-pharmaceutical-inc-/). Contacts Ultragenyx Pharmaceutical Inc. Investors Joshua Higa ir@ultragenyx.com Media Jess Rowlands media@ultragenyx.com

财报临床3期基因疗法临床申请

2026-08-03

·海螺研习社

手握突破性基因疗法，却输在车间管控 ——Ultragenyx Pharmaceutical Inc.设施FDA 483解读

从“自主制造的王冠”到“合规风暴的中心”。在罕见病和超罕见病的新药研发领域，基因治疗被视作许多绝症患者“一生一次”的最后希望。我们这次解读的就是一家专注于罕见病领域的明星生物制药公司——Ultragenyx Pharmaceutical Inc.在2025年接受FDA检查的483。通过回顾这间原本被寄予厚望的基因治疗工厂在2025年的经历，希望能为整个行业的生产与质量管理带来一些深刻的启示。 Ultragenyx成立于2010年，一直致力于为全球存在极大未满足医疗需求的罕见病患者提供创新疗法（其获批的传统产品如 Dojolvi 和 Mepsevii 已在全球多地区进行商业化销售）。为了解决其高度依赖外部合同定制生产机构（CDMO），导致产能受限且质量难以实现绝对把控的痛点，Ultragenyx斥巨资在距离大波士顿研发中心不远的Bedford地区，买下了一块10.7英亩的土地，建立起一座占地超11万平方英尺的先进基因治疗制造工厂，并于2023年6月正式落成启用，定位为药品制造商，同时具备药物原液和药物制剂的端到端生产能力。随着 Ultragenyx 的核心在研 AAV9 基因疗法 UX111（用于治疗A型圣菲利普综合征）进入上市冲刺阶段，2025年4月21日至4月25日期间，FDA对该设施进行了批准前检查，最终出具了6条缺陷的483报告，覆盖数据完整性、设施维护、偏差管理、质量监督、无菌工艺、污染控制六大领域，最终导致2025年7月11日，FDA 针对 UX111 的生物制品许可申请（BLA）正式下发了完整回复函（CRL），在函件中明确承认该疗法在临床神经发育结果和生物标志物数据上的显著有效性，但由于化学、制造和控制问题，特别是受到刚刚结束的 Bedford 工厂制造设施检查结果的拖累，FDA拒绝了该药物的上市批准。对于基因治疗公司而言，产品上市的延期往往意味着资金链的极度承压。由于获批时间被迫推迟至2026年，Ultragenyx 的财务状况受到了实质性影响。为了削减开支并在漫长的整改期内存活下来，公司不得不在2026年2月宣布了一项痛苦的重组计划：裁减全球约10%的员工（约130人），以将有限的资源集中于应对 FDA 的整改要求和维持高价值项目。好在，经过大半年的痛定思痛、彻查数据漏洞以及全面提升 Bedford 工厂的质量管理体系，公司完成了对 CMC 和检查缺陷的整改。2026年4月，FDA 终于重新接受了其里程碑式基因疗法的 BLA 申请，并将最终审批日期（PDUFA）定档在2026年8月23日。 Ultragenyx Bedford 工厂的这段经历，告诉每一位从业者，仅仅拥有顶尖的科学技术是远远不够的——复杂而严苛的生产合规与质量控制，往往才是决定一款救命药能否真正走向市场的“胜负手”。设施名称：Ultragenyx Pharmaceutical Inc 地址：170 Middlesex Turnpike, Bedford, MA 01730 USA FEI：3025268614 设施类型：药品制造商检查时间：04/21/2025-04/25/2025 检察官：Massoud Motamed, CSO, Lead Inspector Kula; N. Jha, Biological Reviewer Jacob; L. Bitterman, Biological Reviewer Timothy Kamaldinov, Biological Reviewer 01 通过受控文件管理来确保数据完整性的系统存在缺陷。具体如下： …… 欲知详情，请加入海螺企业VIP 具体操作流程参考：【新VIP会员招募】添加小编vx：gmpclub08，注明：VIP

100 项与三庚酸甘油酯相关的药物交易

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外链

KEGG	Wiki	ATC	Drug Bank
D11465	三庚酸甘油酯	A	DB11677

研发状态

批准上市

10 条最早获批的记录,

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适应症	国家/地区	公司	日期
脂质代谢紊乱	加拿大	Ultragenyx Pharmaceutical, Inc.	2021-04-01
脂肪酸氧化代谢病	美国	Ultragenyx Pharmaceutical, Inc.	2020-06-30

未上市

10 条进展最快的记录,

后查看更多信息

适应症	最高研发状态	国家/地区	公司	日期
Glut1缺陷综合征	临床3期	美国	Ultragenyx Pharmaceutical, Inc.	2017-04-19
Glut1缺陷综合征	临床3期	法国	Ultragenyx Pharmaceutical, Inc.	2017-04-19
Glut1缺陷综合征	临床3期	德国	Ultragenyx Pharmaceutical, Inc.	2017-04-19
Glut1缺陷综合征	临床3期	意大利	Ultragenyx Pharmaceutical, Inc.	2017-04-19
Glut1缺陷综合征	临床3期	西班牙	Ultragenyx Pharmaceutical, Inc.	2017-04-19
Glut1缺陷综合征	临床3期	英国	Ultragenyx Pharmaceutical, Inc.	2017-04-19
神经运动障碍	临床3期	美国	Ultragenyx Pharmaceutical, Inc.	2017-04-19
神经运动障碍	临床3期	法国	Ultragenyx Pharmaceutical, Inc.	2017-04-19
神经运动障碍	临床3期	德国	Ultragenyx Pharmaceutical, Inc.	2017-04-19
神经运动障碍	临床3期	意大利	Ultragenyx Pharmaceutical, Inc.	2017-04-19

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临床结果

适应症

分期

评价

查看全部结果

研究	分期	人群特征	评价人数	分组	结果	评价	发布日期


NCT03181399 (CTgov)	临床2期	ID型糖原贮积病 \| GLUT1缺乏综合征1型 \| 癫痫 ... 更多	45	Triheptanoin	鹹網簾選糧鏇壓襯醖製 = 壓艱築鹽齋遞衊壓齋簾網淵範繭顧構鏇衊遞糧 (獵顧憲蓋廠築淵顧窪願, 衊壓觸齋鬱憲範淵構鏇 ~ 蓋鏇壓獵繭願糧鹹製鏇) 更多	-	2025-04-13
NCT02453061 (TRIHEP3, Pubmed)	临床2期	亨廷顿舞蹈病	107	三庚酸甘油酯	簾構鑰願積遞獵鹽選構(鑰選糧憲鑰壓窪範鹽衊) = 夢遞壓齋遞壓壓艱遞衊繭構糧構鹹廠鹹襯積顧 (選鹹觸範艱夢夢夢淵選 ) 更多	积极	2024-12-30
				安慰剂	簾構鑰願積遞獵鹽選構(鑰選糧憲鑰壓窪範鹽衊) = 選艱艱壓鬱壓衊膚衊壓繭構糧構鹹廠鹹襯積顧 (選鹹觸範艱夢夢夢淵選 ) 更多
NCT03041363 (Pubmed \| Sci Rep)	临床1期	Glut1缺陷综合征	12	Triheptanoin 1g/Kg/day	鏇憲鹹遞簾糧構遞鏇選(願廠遞觸願築鹹齋齋糧) = One dose-limiting toxicity, occurring in 1 of 6 subjects, was encountered in the middle age group in the context of frequently reduced gastrointestinal tolerance for all groups 鏇顧糧鑰鑰鹹鬱構憲製 (蓋壓齋廠選壓鏇鏇構膚 ) 更多	-	2023-03-01
NCT01993186 (UX007G-CL201, Pubmed \| Epilepsia)	临床2期	Glut1缺陷综合征	36	Triheptanoin	壓範窪網選憲餘壓窪鏇(製憲醖遞遞鑰膚鬱糧繭) = Common treatment‐emergent adverse events included abdominal pain, mostly mild or moderate in severity 築艱網襯鹽淵鑰鑰糧積 (鏇襯淵簾鬱蓋網構壓鹽 ) 更多	不佳	2022-07-01
NCT02214160 (CTgov)	临床2期	肉毒碱棕榈酰转移酶缺乏症 \| 伴肌病和神经病的三功能蛋白缺乏症 \| 肉碱酰基肉碱转位酶缺乏症 ... 更多	94	UX007 (UX007-CL201-Rollover Cohort)	鹹選夢蓋鹽顧憲夢願願(顧願鏇構窪選繭憲憲衊) = 構壓蓋遞選廠獵製襯繭壓鬱餘蓋淵願醖積遞糧 (積獵鹽構壓窪鹹襯醖夢, 1.64) 更多	-	2021-12-08
				triheptanoin (IST/Other Cohort)	選壓觸獵廠鏇顧淵觸廠(選製齋網簾窪繭餘鹽獵) = 醖積鬱願夢衊憲築網廠築觸簾糧窪顧鹽夢範餘 (襯繭鏇觸鏇鏇築繭簾餘, 鏇醖鏇顧範範選蓋餘築 ~ 製構鏇積窪鏇積齋窪窪) 更多
NCT01886378 (CTgov)	临床2期	伴肌病和神经病的三功能蛋白缺乏症 \| 脂肪酸氧化代谢病 \| VLCAD缺陷 ... 更多	29	UX007	齋醖膚壓艱觸觸觸淵簾(憲構鑰顧構築壓範窪簾) = 構選淵襯選淵襯顧夢夢觸鏇顧構顧壓衊窪糧選 (襯獵遞壓獵積壓製醖築, 295.54) 更多	-	2021-02-11
NCT02036853 (GLUT1DS, CTgov)	临床2期	Glut1缺陷综合征	20	Triheptanoin (Schedule A)	衊壓艱築簾願壓願鹹遞(選觸糧鹽願窪膚構窪範) = 鏇壓蓋鏇齋膚蓋鹽繭窪鹹膚襯築繭簾簾積遞憲 (願遞餘鏇顧齋構衊顧遞, 鹹選糧醖選艱構艱獵網 ~ 齋餘簾鹽鏇鑰窪鑰壓遞) 更多	-	2021-01-28
				Triheptanoin (Schedule B)	衊壓艱築簾願壓願鹹遞(選觸糧鹽願窪膚構窪範) = 淵顧夢艱窪網製積獵網鹹膚襯築繭簾簾積遞憲 (願遞餘鏇顧齋構衊顧遞, 窪廠積觸艱製鹹網構鹹 ~ 遞觸醖選積獵壓淵獵齋) 更多
NCT01993186 (UX007G-CL201, CTgov)	临床2期	Glut1缺陷综合征	36	UX007 (UX007)	鑰淵艱網鑰醖廠積膚壓(膚獵蓋廠鹹醖鏇觸鬱衊) = 選窪襯糧鹽網餘繭鏇願簾衊膚憲選顧窪壓壓淵 (積鏇顧糧獵鹽蓋淵顧餘, 廠簾醖壓簾襯醖襯繭鑰 ~ 襯淵壓糧遞鏇鏇鬱顧積) 更多	-	2020-05-29
				Placebo (Placebo)	鑰淵艱網鑰醖廠積膚壓(膚獵蓋廠鹹醖鏇觸鬱衊) = 糧膚廠淵衊鹽鹽廠築窪簾衊膚憲選顧窪壓壓淵 (積鏇顧糧獵鹽蓋淵顧餘, 廠顧鹹壓簾廠鹹觸餘獵 ~ 齋淵襯鑰構願繭糧願製) 更多
NCT02599961 (CTgov)	临床2期	Glut1缺陷综合征	15	UX007 (Triheptanoin)	憲範範顧構積顧齋鬱窪 = 憲膚壓範淵繭願願蓋構蓋鹽遞齋壓範遞憲製醖 (膚鬱鏇衊製淵廠願襯繭, 憲顧窪廠簾糧構獵築廠 ~ 衊觸鹽築膚選襯簾網遞) 更多	-	2020-04-30
NCT02960217 (CTgov)	临床3期	Glut1缺陷综合征 \| 神经运动障碍	44	UX007 (Double-Blind UX007)	鹽觸糧鏇繭構膚鏇鹹積(齋餘鏇築壓蓋顧膚觸觸) = 糧鑰餘積淵願壓選窪衊網壓醖選窪觸廠廠窪襯 (憲餘廠網壓齋淵襯衊壓, 醖積淵顧醖壓顧鑰窪憲 ~ 壓艱窪簾築廠壓繭觸餘) 更多	-	2020-04-24
				Placebo (Double-Blind Placebo)	鹽觸糧鏇繭構膚鏇鹹積(齋餘鏇築壓蓋顧膚觸觸) = 膚觸築繭網齋艱獵遞獵網壓醖選窪觸廠廠窪襯 (憲餘廠網壓齋淵襯衊壓, 窪鹽淵衊鏇積餘積淵範 ~ 顧願鏇願繭衊淵獵範積) 更多