A pivotal, randomized, double-blind, placebo-controlled, multi-center therapeutic study for patients age 4 and older with a confirmed diagnosis of CACNA1A. The objective of this study is to evaluate the safety, tolerability and efficacy of N-acetyl-L-leucine (IB1001) compared to standard of care.

开始日期2026-09-01

申办/合作机构

IntraBio Ltd.

NCT06673056

/ Active, not recruiting临床3期

Effects of N-Acetyl-L-Leucine on Ataxia-Telangiectasia (A-T: A Phase III, Randomized, Placebo-controlled, Double-blind, Crossover Study

A pivotal, randomized, double-blind, placebo-controlled, multi-center therapeutic study for patients age 4 and older with a confirmed diagnosis of Ataxia-Telangiectasia (A-T). The objective of this study is to evaluate the safety, tolerability and efficacy of N-acetyl-L-leucine (IB1001) compared to standard of care.

开始日期2025-03-18

申办/合作机构

IntraBio Ltd.

IRCT20210413050958N7

/ Suspended临床1/2期IIT

The effects of N-Acetyl-L-Leucine on the improvement of symptoms in patients with Spinocerebellar ataxia

开始日期2023-06-22

申办/合作机构

Mashhad University of Medical Sciences

100 项与 N-乙酰-L-亮氨酸相关的临床结果

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100 项与 N-乙酰-L-亮氨酸相关的转化医学

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100 项与 N-乙酰-L-亮氨酸相关的专利（医药）

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678

项与 N-乙酰-L-亮氨酸相关的文献（医药）

2026-01-01·BRAIN RESEARCH BULLETIN

Investigation of dipyridamole-elicited signaling in the brain of Niemann Pick type C mice: A multi-omic study

Article

作者: Fratini, Federica ; Boussadia, Zaira ; Venturini, Gloria ; Ferrante, Antonella ; Tait, Sabrina ; Le Pera, Loredana ; Marra, Manuela ; Gaddini, Lucia

Niemann Pick type C1 (NPC1) is a rare, fatal disorder characterized by endo-lysosomal (EL) lipid accumulation that leads to damage of both peripheral organs and central nervous system, with cerebellum and hippocampus being particularly affected. Currently very few therapeutic options exist in Europe for NPC. In fact, miglustat is the only approved drug and L-acetylleucine was recently granted for marketing authorization by European Medicine Agency. Thus, the identification of new treatments is mandatory. We have previously demonstrated that dipyridamole (DIP), an approved medicine that is clinically employed as an antiplatelet agent, could rescue recognition memory and increase hippocampal expression of calbindin. On the contrary, the drug was unable to improve cerebellar-dependent motor function. In order to elucidate the mechanism of these region-specific changes induced by DIP, in this work we performed a multi-omic analysis of genes and proteins modulated by the treatment in the hippocampus and cerebellum of a mouse model of NPC1 (Npc1^-/-). Our results revealed that DIP significantly affected various pathways in the hippocampus at protein level, but it had no significant impact on pathways in the cerebellum (either at gene or protein level). Interestingly, the most affected pathways in the hippocampus of Npc1^-/- mice administered with DIP were those related to cGMP-PKG activation and to mitochondrial function. Our results paved the way to test DIP in experimental models of other neurodegenerative disorders, such as Alzheimer's disease that is similarly marked by hippocampal and mitochondrial dysfunctions.

2025-10-31·BMB Reports

N-acetyl-L-alanine ameliorates atopic dermatitis-like symptoms by suppressing Th2 differentiation in DNFB-induced NC/Nga mice

Article

作者: Lim, Hyung-Jin ; Song, Hwa-Ryung ; TSogt, Uyanga ; Han, Myung-Kwan ; Duan, Suhong ; Kim, Seung-Gook ; Bao, Jiaying ; Kim, Jong-Suk

Atopic dermatitis (AD) is a chronic dermatological disorder characterized by intense pruritus and eczematous lesions. Repeated topical application of 2,4-dinitrofluorobenzene (DNFB) in NC/Nga mice produces AD-like clinical symptoms that closely resemble human AD. N-acetyl-L-alanine (L-NAA), a derivative of L-Alanine, has unknown biological and physiological effects on cutaneous tissue. In this study, we investigated whether L-NAA modifies AD-like symptoms elicited by ongoing DNFB exposure in NC/Nga mice. Topical administration of L-NAA markedly attenuated the development of AD-like cutaneous lesions triggered by DNFB. L-NAA treatment further suppressed DNFB-induced infiltration of eosinophils and mast cells and prevented the increase of serum IgE resulting from DNFB application. L-NAA treatment decreased DNFB-stimulated expression of IL-4, a Th2-associated cytokine, but increased IFN-γ expression, indicative of Th1 activity, within the skin lesions. In addition, L-NAA prevented the DNFB-driven upregulation of GATA3, a central regulator of Th2 lineage differentiation, in CD4＋ cells, with no effect on T-bet, the principal regulator of Th1 cells. These findings indicate that L-NAA can limit Th2 differentiation in the AD mouse model. Therefore, L-NAA may serve as a promising therapeutic and immunomodulatory compound against AD. [BMB Reports 2025; 58(10): 437-443].

2025-10-01·JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS

Multi-omics analysis reveals classic decoction alleviates ulcerative colitis by modulating tryptophan metabolism, gut microbiota homeostasis, and mitochondrial Bax/Bcl-2 pathways

Article

作者: Peng, Shen ; Wang, Ping ; Tao, Yi ; Yang, Xujin

Gegen Qinlian Decoction (GQD), a classic decoction documented in the Treatise on Febrile Diseases, is clinically used to treat ulcerative colitis (UC). However, the active components and underlying pharmacological mechanisms of GQD in UC remain inadequately explored. Herein, we identify the active components and elucidate the underlying pharmacological mechanisms of GQD in the treatment of UC. A mouse model of UC was induced using dextran sulfate sodium (DSS) and treated with low, medium, and high doses of GQD. The therapeutic effects were assessed by monitoring body weight, disease activity index (DAI), colon length, spleen index, pathological changes, and cytokine levels. Plasma biomarkers were analyzed using Ultra-Performance Liquid Chromatography Quadrupole-Orbitrap mass spectrometer (UPLC-Q-Orbitrap MS)-based metabolomics. Changes in gut microbiota were also examined to identify key microbes involved in the intestinal pathological shifts. Additionally, network pharmacology analysis was conducted to predict the potential pathways of GQD in UC, which were subsequently validated by western blotting and ELISA assays. GQD significantly improved UC symptoms.A total of 98 chemical constituents in GQD were identified. Of these, 25 differential metabolites were found between normal and UC mice, with GQD modulating 22 of these metabolites. Metabolic pathways related to tryptophan, arginine, and proline were normalized. Network pharmacology predicted the apoptosis pathway as a potential target for GQD in UC intervention. Further experiments confirmed that GQD reduced pro-inflammatory cytokines (TNF-α, IL-6, IL-1β) and downregulated the Bax/Bcl-2 apoptosis pathway. Moreover, gut microbiota analysis showed that GQD enhanced the diversity and abundance of beneficial bacteria. GQD alleviates UC by modulating tryptophan, arginine, and proline metabolism, maintaining gut microbiota balance, and reducing apoptosis in intestinal cells.

项与 N-乙酰-L-亮氨酸相关的新闻（医药）

2026-01-25

·EndPoints

IntraBio says rare disease drug passes Phase 3 test, will seek FDA approval

The Austin, TX-based biotech told Endpoints News it plans to submit an application to the FDA in April that would seek approval for its drug, Aqneursa. Known generically as N-acetyl-L-leucine, Aqneursa was first approved in 2024 to treat neurological symptoms related to another rare disease called Niemann-Pick disease type C. There are currently no approved treatments specifically for ataxia-telangiectasia. Seventy-three patients with the disorder were enrolled as part of the Phase 3 trial, and they received either Aqneursa or placebo every day. After 12 weeks of treatment, patients who received Aqneursa saw a -1.92-point improvement on a measure of motor function called the Scale for the Assessment and Rating of Ataxia, according to the results reported Wednesday. Meanwhile, patients who received placebo saw a -0.14-point score change. That difference was statistically significant with a p-value of p Ataxia-telangiectasia is a progressive disease characterized by ataxia — a loss of muscle control — and tiny red blood vessels called telangiectasias on the skin and in the eyes. The disease starts in childhood, gets worse over time and can affect many organs of the body. IntraBio said the study also met secondary endpoints and that the drug was “safe and well-tolerated” in the study. The biotech also said Wednesday that European authorities granted marketing authorization to Aqneursa for Niemann-Pick disease type C. It’s also planning to seek European approval for the treatment of ataxia-telangiectasia. The content above comes from the network. if any infringement, please contact us to modify.

临床结果上市批准

2026-01-22

·药明康德

产业新闻 | 超8亿美元！百时美施贵宝达成抗癌免疫疗法合作；8200万美元A轮融资！新锐目标加速罕见病药物开发……

超8亿美元！百时美施贵宝达成抗癌免疫疗法合作 Janux Therapeutics今日宣布与百时美施贵宝（Bristol Myers Squibb）达成合作并签署全球独家许可协议。根据协议，双方将共同开发一款尚未披露细节的全新肿瘤激活型治疗药物，该药物靶向一种已验证的实体瘤抗原，并在多种人类癌症类型中表达。Janux是一家处于临床阶段的生物医药公司，依托其专有技术平台，正在构建涵盖肿瘤激活T细胞连接器（TRACTr）、肿瘤激活免疫调节剂（TRACIr）以及自适应免疫反应调节器（ARM）的广泛免疫治疗研发管线。在此次合作中，Janux将负责完成从早期研究到IND申报前的临床前开发工作；百时美施贵宝将承担后续的临床开发及全球商业化职责，Janux则将持续参与项目推进，并支持百时美施贵宝直至首项1期临床研究完成。根据协议条款，Janux有望获得最高达5000万美元的首付款及近期里程碑付款，并在研发、监管及商业化阶段累计获得最高约8亿美元的里程碑款项。 8200万美元A轮融资！新锐目标加速罕见病药物开发 Mendra今日宣布正式走出隐匿模式，并同步完成一轮总额为8200万美元的超额认购A轮融资。本轮融资由OrbiMed、8VC和5AM Ventures共同领投，Lux Capital与Wing VC参与投资。此次融资为Mendra后续战略布局奠定了基础。Mendra由8VC与5AM于2025年联合创立，是一家聚焦于提升全球罕见病疗法研发与商业化效率的生物医药公司。公司致力于通过现代化手段优化罕见病药物的开发路径，以更高效率将治疗方案惠及全球患者。根据规划，Mendra将利用人工智能技术，加速患者识别、临床试验入组以及推进药物全球上市的进程。本轮A轮融资资金将主要用于收购并推进公司首批罕见病项目资产，逐步构建其核心产品组合。创新疗法关键3期试验结果积极，即将递交监管申请 IntraBio近日公布其关键性3期临床试验IB1001-303的积极顶线结果。该研究评估了Aqneursa（levacetylleucine）在儿童及成人共济失调-毛细血管扩张症（Ataxia-Telangiectasia，A-T）患者中的疗效与安全性。试验的主要终点为治疗12周后，levacetylleucine相较安慰剂在共济失调评估量表（SARA）上的改善情况。结果显示，levacetylleucine组SARA评分较安慰剂组实现了具有统计学显著性且具有临床意义的改善，差异为-1.88分（levacetylleucine组-1.92分，安慰剂组-0.14分，p<0.001）。在次要终点方面，该试验同样达到预设目标。Levacetylleucine在国际共济失调评分量表（ICARS）和研究者总体疗效改善评估（CGI-I）上均显示出统计学显著且具有临床意义的改善，同时整体安全性和耐受性良好，未观察到与药物相关的严重不良事件，结果与其既往安全性特征一致。基于上述积极数据，IntraBio计划立即推进向美国FDA、欧洲药品管理局（EMA）及其他全球监管机构提交监管申请。共济失调-毛细血管扩张症是一种罕见的遗传性进行性神经退行性疾病，通常在儿童早期发病，患者亟需新的有效治疗选择。参考资料： [1] Janux Therapeutics Announces Collaboration and Exclusive Worldwide License Agreement with Bristol Myers Squibb to Develop a Novel Tumor-Activated Therapeutic for Solid Tumors. Retrieved January 22, 2026 from https://www.businesswire.com/news/home/20260122827394/en/Janux-Therapeutics-Announces-Collaboration-and-Exclusive-Worldwide-License-Agreement-with-Bristol-Myers-Squibb-to-Develop-a-Novel-Tumor-Activated-Therapeutic-for-Solid-Tumors [2] Mendra Launches with $82 Million Series A to Acquire, Develop, and Commercialize Therapeutics for High Unmet Need Rare Diseases. Retrieved January 22, 2026 from https://www.businesswire.com/news/home/20260121342918/en/Mendra-Launches-with-%2482-Million-Series-A-to-Acquire-Develop-and-Commercialize-Therapeutics-for-High-Unmet-Need-Rare-Diseases [3] IntraBio Announces Positive Pivotal Trial Results of Levacetylleucine for the Treatment of Ataxia-Telangiectasia. Retrieved January 22, 2026 from https://www.businesswire.com/news/home/20260121091020/en/IntraBio-Announces-Positive-Pivotal-Trial-Results-of-Levacetylleucine-for-the-Treatment-of-Ataxia-Telangiectasia 免责声明：本文仅作信息交流之目的，文中观点不代表药明康德立场，亦不代表药明康德支持或反对文中观点。本文也不是治疗方案推荐。如需获得治疗方案指导，请前往正规医院就诊。版权说明：欢迎个人转发至朋友圈，谢绝媒体或机构未经授权以任何形式转载至其他平台。转载授权请在「药明康德」微信公众号回复“转载”，获取转载须知。分享，点赞，在看，聚焦全球生物医药健康创新

2026-01-21

·FiercePharma

IntraBio's Aqneursa, on a roll with EU approval, races toward another rare disease indication with phase 3 win

The company is heading to global regulators "immediately" based on the results of its phase 3 study of Aqneursa in Ataxia-Telangiectasia. As IntraBio works to grow the global treatment market for Aqneursa in Niemann-Pick disease type C, the company is already carving the path to a second potential use for the drug.The Texas-based pharma is planning to “immediately” advance regulatory bids with the FDA, the European Medicines Agency (EMA) and other global regulators based on the results of its phase 3 study of Aqneursa (levacetylleucine) in Ataxia-Telangiectasia (A-T)—a progressive neurodegenerative disease that impacts about 1 in 70,000 people and has no approved treatments, IntraBio said in a Wednesday press release.In the study, treatment with Aqneursa prompted a statistically significant and clinically meaningful -1.88-point improvement on the Scale for the Assessment and Rating of Ataxia (SARA) over placebo after 12 weeks, the company said. The trial’s secondary endpoints were also met based on positive showings on other clinical measures of ataxia, IntraBio added.The results represent a “major scientific and clinical milestone,” trial investigator Franziska Hoche, M.D., said in the release, offering “compelling evidence that levacetylleucine has a meaningful impact on A-T patients’ lives.”A-T typically manifests in early childhood with symptoms that include progressive loss of coordination, impaired speech and eye movements and wheelchair dependence as the brain’s cerebellum degenerates. Many patients also experience visible blood vessel changes, immune system deficiencies, lung disease and a significantly increased risk of cancer, the company said.“This offers real hope that families will soon have access to their first effective and safe treatment approved for A-T,” Brad Margus, who founded the A-T Children’s Project nonprofit, added in the release. “We look forward to continuing to collaborate with IntraBio to help ensure levacetylleucine is rapidly approved by the FDA and made available for patients in our community, given their urgent need for effective, approved treatments.” IntraBio partnered up on the study with key opinion leaders and A-T patient organizations to evaluate symptomatic effects and longer-term clinical outcomes, the company noted. Elsewhere, Aqneursa is also in late-stage development for a group of rare neurological conditions linked to mutations in the CACNA1A gene.Niemann-Pick disease type C market gainsIt wasn't long ago that IntraBio and Aqneursa entered the commercial frontier with an FDA nod in lysosomal storage disorder Niemann-Pick disease type C (NPC), quickly becoming the second therapy approved for the condition just days after Zevra Therapeutics’ Miplyffa crossed the regulatory finish line in 2024.IntraBio made its treatment available immediately upon approval, effectively erasing the short head start Miplyffa had as the latter contender took a couple extra weeks to get off the ground. Compared to Miplyffa’s dosing regimen that includes Johnson & Johnson’s enzyme inhibitor Zavesca, Aqneursa is the U.S.’s first stand-alone therapy that can treat the adult and pediatric patient populations, IntraBio points out. As of Jan. 21, Aqneursa is already making broader global headway than its rival thanks to a new approval from the European Commission. In Europe, the drug must be taken alongside Zavesca or by itself in patients who can't tolerate the enzyme inhibitor, according to the company's Wednesday release.Miplyffa, meanwhile, has not yet snagged its coveted European approval. At the recent J.P. Morgan Healthcare Conference in San Francisco, Zevra execs placed a high emphasis on the sizeable commercial opportunity that the European market presents, given higher diagnoses rates there.IntraBio, a private company, has not disclosed sales figures for Aqneursa, but Zevra has secured 137 prescription enrollment forms since its NPC launch as of the third quarter. Analysts at Delveinsight expect Aqneursa to generate $500 million in peak U.S. sales in NPC.

临床3期临床结果上市批准

100 项与 N-乙酰-L-亮氨酸相关的药物交易

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适应症	国家/地区	公司	日期
C型尼曼匹克病	美国	IntraBio, Inc.	2024-09-24

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适应症	最高研发状态	国家/地区	公司	日期
阵发性共济失调2型	临床3期	美国	IntraBio Ltd.	2026-09-01
阵发性共济失调2型	临床3期	德国	IntraBio Ltd.	2026-09-01
阵发性共济失调2型	临床3期	瑞士	IntraBio Ltd.	2026-09-01
家族性1型偏瘫性偏头痛	临床3期	美国	IntraBio Ltd.	2026-09-01
家族性1型偏瘫性偏头痛	临床3期	德国	IntraBio Ltd.	2026-09-01
家族性1型偏瘫性偏头痛	临床3期	瑞士	IntraBio Ltd.	2026-09-01
脊髓小脑性共济失调	临床3期	美国	IntraBio Ltd.	2026-09-01
脊髓小脑性共济失调	临床3期	德国	IntraBio Ltd.	2026-09-01
脊髓小脑性共济失调	临床3期	瑞士	IntraBio Ltd.	2026-09-01
共济失调毛细血管扩张	临床3期	美国	IntraBio Ltd.	2025-03-18

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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


S31.004 (AAN2025)	临床3期	C型尼曼匹克病	60	Levacetylleucine	鹹窪觸窪艱蓋齋顧鑰鹹(淵廠鬱艱壓窪淵簾鏇鬱) = On each mDRS domain there was improvement from baseline when patients received levacetylleucine and a greater improvement in each domain when patients were treated with levacetylleucine versus placebo 遞齋鹽繭鏇網獵鹹鏇積 (醖齋醖餘鹽繭醖夢製壓 ) 更多	积极	2025-04-07
				Placebo
NCT05163288 (FDA_CDER) 人工标引	临床3期	C型尼曼匹克病	60	AQNEURSA	淵膚夢觸網鏇夢襯網構(餘鹽憲醖選獵鑰鏇衊積) = 築衊餘醖鹽壓糧淵餘夢選簾網鹹淵膚獵積觸鏇 (餘壓糧醖積遞淵蓋壓顧, 0.1)	积极	2024-09-24
				Placebo	淵膚夢觸網鏇夢襯網構(餘鹽憲醖選獵鑰鏇衊積) = 鬱網繭構選夢願築製憲選簾網鹹淵膚獵積觸鏇 (餘壓糧醖積遞淵蓋壓顧, 0.1)
NCT03759665 (Accesswire) 人工标引	临床2期	GM2神经节苷脂贮积症	30	IB1001	膚醖選鏇製觸襯積觸鬱(積簾選鏇醖鹹鹽願膚衊) = statistically significant change. 90% CI: 0.00, 1.50, p-value = 0.039 範觸獵構艱餘憲積顧構 (醖艱衊選鏇襯艱構膚壓 ) 更多	积极	2021-09-14
NCT03759639 (Pubmed \| J Neurol) 人工标引	临床2期	C型尼曼匹克病	32	N-acetyl-L-leucine	膚獵網積構鬱顧餘壓廠(糧糧簾齋廠遞蓋夢網鬱) = NALL met the CI-CS primary endpoint (mean difference 0.86, SD = 2.52, 90% CI 0.25, 1.75, p = 0.029) 糧獵壓衊醖衊顧鏇壓積 (淵齋壓簾鹽淵網襯窪觸 )	积极	2021-08-13
NCT00768287 (CTgov)	临床2/3期	血友病B	77	IB1001 (IB1001)	憲鑰網範顧製齋襯壓遞(觸淵顧構觸蓋鑰醖鏇製) = 餘製壓網齋糧廠衊壓餘淵觸鏇觸膚襯醖網積鹽 (觸獵築壓襯簾艱繭糧鑰, 451.5) 更多	-	2018-09-10
				nonacog alfa (Nonacog Alfa)	憲鑰網範顧製齋襯壓遞(觸淵顧構觸蓋鑰醖鏇製) = 壓壓糧獵夢糧淵觸淵鏇淵觸鏇觸膚襯醖網積鹽 (觸獵築壓襯簾艱繭糧鑰, 468.6) 更多