更新于：2024-05-01

NGLY1

N-glycanase 1

更新于：2024-05-01

基本信息

别名

FLJ11005、hPNGase、N-glycanase 1

+ [6]

简介

Specifically deglycosylates the denatured form of N-linked glycoproteins in the cytoplasm and assists their proteasome-mediated degradation. Cleaves the beta-aspartyl-glucosamine (GlcNAc) of the glycan and the amide side chain of Asn, converting Asn to Asp. Prefers proteins containing high-mannose over those bearing complex type oligosaccharides. Can recognize misfolded proteins in the endoplasmic reticulum that are exported to the cytosol to be destroyed and deglycosylate them, while it has no activity toward native proteins. Deglycosylation is a prerequisite for subsequent proteasome-mediated degradation of some, but not all, misfolded glycoproteins.

关联

项与 NGLY1 相关的药物

GS-100

靶点-

作用机制

NGLY1 调节剂 [+1]

在研机构

Grace Science LLC初创企业 [+1]

原研机构

Grace Science Foundation

在研适应症

NGLY1缺陷 [+1]

非在研适应症-

最高研发阶段临床1/2期

首次获批国家/地区-

首次获批日期1800-01-20

项与 NGLY1 相关的临床试验

NCT06199531 / Recruiting临床1/2期

A Phase 1/2/3 Open-label, Single Arm, Dose-finding Study to Investigate Long-term Safety, Tolerability and Efficacy of GS-100, an Adeno-associated Virus Serotype 9 (AAV9) Vector-mediated Gene Transfer of Human NGLY1, in Patients With NGLY1 Deficiency

A non-randomized, open-label, dose escalation study of a single intracerebroventricular (ICV) administration of a gene replacement therapy in subjects who are 2 to 18 years old with NGLY1 Deficiency.

开始日期2024-02-13

申办/合作机构

Grace Science LLC初创企业

100 项与 NGLY1 相关的临床结果

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100 项与 NGLY1 相关的转化医学

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0 项与 NGLY1 相关的专利（医药）

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386

项与 NGLY1 相关的文献（医药）

2023-12-29·Journal of biochemistry

A commentary on "Patient-derived gene and protein expression signatures of NGLY1 deficiency".

Article

作者: Tadashi Suzuki

The cytosolic peptide:N-glycanase (PNGase; NGLY1 in human and PNG1 in budding yeast) is a deglycosylating enzyme widely conserved in eukaryotes. Initially, functional importance of this enzyme remained unknown as the png1Δ mutant in yeast did not exhibit any significant phenotypes. However, the discovery of NGLY1 deficiency, a rare genetic disorder with biallelic mutations in NGLY1 gene, prompted an intensification of research that has resulted in uncovering the significance of NGLY1 as well as the proteins under its influence that are involved in numerous cellular processes. A recent report by Rauscher et al. (Patient-derived gene and protein expression signatures of NGLY1 deficiency. J. Biochem. 2022; 171: 187-199) presented a comprehensive summary of transcriptome/proteome analyses of various cell types derived from NGLY1 deficient patients. The authors also provide a web application called "NGLY1 browser", which will allow researchers to have access to a wealth of information on gene and protein expression signature for patients with NGLY1 deficiency.

2023-12-07·European journal of medical genetics

Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.

Review

作者: Yuri Sonoda ; Atsushi Fujita ; Michiko Torio ; Takahiko Mukaino ; Ayumi Sakata ; Masaru Matsukura ; Kousuke Yonemoto ; Ken Hatae ; Yuko Ichimiya ; Pin Fee Chong ; Masayuki Ochiai ; Yoshinao Wada ; Machiko Kadoya ; Nobuhiko Okamoto ; Yoshiko Murakami ; Tadashi Suzuki ; Noriko Isobe ; Hiroshi Shigeto ; Naomichi Matsumoto ; Yasunari Sakai ; Shouichi Ohga

INTRODUCTION:

NGLY1-associated congenital disorder of deglycosylation (CDDG1: OMIM #615273) is a rare autosomal recessive disorder caused by a functional impairment of endoplasmic reticulum in degradation of glycoproteins. Neurocognitive dysfunctions have been documented in patients with CDDG1; however, deteriorating phenotypes of affected individuals remain elusive.

CASE PRESENTATION:

A Japanese boy with delayed psychomotor development showed ataxic movements from age 5 years and myoclonic seizures from age 12 years. Appetite loss, motor and cognitive decline became evident at age 12 years. Electrophysiological studies identified paroxysmal discharges on myoclonic seizure and a giant somatosensory evoked potential. Perampanel was effective for controlling myoclonic seizures. Exome sequencing revealed that the patient carried compound heterozygous variants in NGLY1, NM_018297.4: c.857G > A and c.-17_12del, which were inherited from mother and father, respectively. A literature review confirmed that myoclonic seizures were observed in 28.5% of patients with epilepsy. No other patients had progressive myoclonic epilepsy or cognitive decline in association with loss-of-function variations in NGLY1.

CONCLUSION:

Our data provides evidence that a group of patients with CDDG1 manifest slowly progressive myoclonic epilepsy and cognitive decline during the long-term clinical course.

2023-11-30·Cell reports

NGLY1 mutations cause protein aggregation in human neurons.

Article

作者: Andreea Manole ; Thomas Wong ; Amanda Rhee ; Sammy Novak ; Shao-Ming Chin ; Katya Tsimring ; Andres Paucar ; April Williams ; Traci Fang Newmeyer ; Simon T Schafer ; Idan Rosh ; Susmita Kaushik ; Rene Hoffman ; Songjie Chen ; Guangwen Wang ; Michael Snyder ; Ana Maria Cuervo ; Leo Andrade ; Uri Manor ; Kevin Lee ; Jeffrey R Jones ; Shani Stern ; Maria C Marchetto ; Fred H Gage

Biallelic mutations in the gene that encodes the enzyme N-glycanase 1 (NGLY1) cause a rare disease with multi-symptomatic features including developmental delay, intellectual disability, neuropathy, and seizures. NGLY1's activity in human neural cells is currently not well understood. To understand how NGLY1 gene loss leads to the specific phenotypes of NGLY1 deficiency, we employed direct conversion of NGLY1 patient-derived induced pluripotent stem cells (iPSCs) to functional cortical neurons. Transcriptomic, proteomic, and functional studies of iPSC-derived neurons lacking NGLY1 function revealed several major cellular processes that were altered, including protein aggregate-clearing functionality, mitochondrial homeostasis, and synaptic dysfunctions. These phenotypes were rescued by introduction of a functional NGLY1 gene and were observed in iPSC-derived mature neurons but not astrocytes. Finally, laser capture microscopy followed by mass spectrometry provided detailed characterization of the composition of protein aggregates specific to NGLY1-deficient neurons. Future studies will harness this knowledge for therapeutic development.

项与 NGLY1 相关的新闻（医药）

2024-03-25

·BioSpace

Andelyn Biosciences and Grace Science, LLC Partner to Tech Transfer Phase I/II/III Manufacturing of a Suspension Process Adeno-Associated Virus (AAV) Gene Therapy for NGLY1 Deficiency

COLUMBUS, Ohio, March 25, 2024 /PRNewswire/ -- Andelyn Biosciences, Inc., a pioneering and patient-focused cell and gene therapy Contract Development and Manufacturing Organization (CDMO), has partnered with Grace Science, LLC, to tech transfer and manufacture GS-100, a suspension process AAV NGLY1 gene therapy for Phase I/II/III clinical trial material for the treatment of NGLY1 Deficiency. NGLY1 Deficiency is a serious, life-threatening disease with no approved therapy. Patients with this disease suffer from a lifetime of debilitating symptoms including developmental delay, cognitive impairment, (hypo) alacrimia, movement disorders, and other neurological symptoms. The partnership will seek to maximize program efficiency, support the ongoing clinical trial, and accelerate this critical therapy to patients. GS-100 is a recombinant AAV9 vector that encodes a full-length version of the human NGLY1 gene. In 2021, GS-100 was granted orphan drug designation (ODD) by the FDA and by the European Medicine Agency (EMA). GS-100 was also granted Rare Pediatric Disease Designation by the FDA in 2021, providing the potential for a Priority Review Voucher upon marketing approval and Fast-Track designation in 2023. Grace Science successfully dosed the first NGLY1 Deficiency patient with GS-100 in February of this year and is planning to dose the second patient in May 2024. As part of the partnership, Grace Science will leverage Andelyn's expertise in AAV processes and capabilities in late-stage manufacturing and commercial-readiness. The partnership instills a quality mindset while also accelerating Grace's manufacturing timelines, offering hope for patients suffering from NGLY1 Deficiency. Matt Niloff, Chief Commercial Officer at Andelyn Biosciences said, "We are privileged to work with a remarkable gene therapy company like Grace Science, whose tremendous dedication to rare diseases is an inspiration. Both Andelyn and Grace Science value strong collaboration and share a customer-centric focus and quality-first mindset. These synergies provide patients and their families confidence and hope for success of the GS-100 program." Matt Wilsey, CEO and Co-Founder of Grace Science stated, "We are very excited about the partnership between Grace Science and Andelyn Biosciences. Andelyn's deep expertise and experience in AAV gene therapy manufacturing will assure that our NGLY1 patients have access to safe, high-quality drug product for our clinical trial and beyond." Andelyn is advancing client discoveries and manufacturing life-altering cell and gene therapies for rare and prevalent diseases. Founded on its extensive experience in AAV development and manufacturing, Andelyn offers its clients technology transfer capabilities, data-driven analytical-based process development and quality vector and plasmid manufacturing at its three Columbus, Ohio facilities. About Andelyn Biosciences, Inc. Andelyn Biosciences is a full-service cell and gene therapy CDMO focused on the development, characterization and production of viral vectors for gene therapy. With more than 20 years of experience, Andelyn's deep scientific expertise has resulted in the production of cGMP material for more than 450 clinical batches and 75 global clinical trials. Operating out of three Columbus, Ohio facilities, Andelyn supports its clients in developing curative cell and gene therapies from concept through plasmid development and manufacturing, process development, and cGMP clinical and commercial manufacturing. Andelyn's versatile capabilities include cGMP manufacturing capacity for both adherent and suspension processes up to a 2,000-liter capacity. An advanced digital model, quality system, full regulatory support and supply chain vertical integration help Andelyn accelerate the development and manufacturing of its clients' innovative cell and gene therapies. For more information, visit andelynbio.com. About Grace Science Grace Science, LLC is a biotechnology company founded in 2017 by Matt Wilsey and Dr. Carolyn Bertozzi to develop novel therapies based on the function of NGLY1, a key enzyme involved in proteostasis. The company's deep knowledge of the NGLY1 pathway is key to its ability to identify new ways of treating NGLY1 Deficiency as well as more common diseases. For more information about Grace Science, LLC and NGLY1 Deficiency, please visit gracescience.com.

孤儿药基因疗法快速通道临床研究

2024-03-09

·药明康德

让脑癌患者5年无癌的CAR-T疗法；挽救女儿生命，父亲助力开发的基因疗法进入临床… | CGT周报

▎药明康德内容团队编辑近期，全球细胞和基因疗法（CGT）领域迎来系列进展。由Mustang Bio和City of Hope联合开发的CAR-T疗法MB-101在治疗复发或难治性恶性胶质瘤的1期临床试验中表现出良好的安全性，1位获得完全缓解的胶质母细胞瘤患者已经无癌超过66个月。Iovance Biotherapeutics公司宣布，美国FDA许可该公司继续进行注册性临床试验IOV-LUN-202，评估其肿瘤浸润淋巴细胞（TIL）疗法LN-145治疗非小细胞肺癌（NSCLC）的效果。本文将节选其中部分重要进展做简单介绍，仅供读者参阅。图片来源：123RF———✦研发进展✦———◇Mustang Bio和City of Hope宣布，双方联合开发的CAR-T细胞疗法MB-101治疗复发或难治性恶性胶质瘤，包括胶质母细胞瘤患者的1期临床数据已发表于Nature Medicine，这些数据展示了MB-101的良好安全性和临床活性，50%接受治疗的患者疾病稳定。MB-101是一款靶向IL-13受体α2（IL-13Rα2）抗原的CAR-T疗法。使用CAR-T疗法治疗脑瘤的一个主要挑战是CAR-T疗法难以穿过血脑屏障。City of Hope研究人员的策略是直接将CAR-T疗法注射到大脑肿瘤中（ICT），以及将CAR-T细胞注射到脑室中（ICV），让脑脊液携带它们到肿瘤病灶。试验结果显示：50%（29/58）接受治疗的患者在至少两个月内获得病情稳定或更好结果。这些患者都接受过大量治疗，属于难治类型。其中有两例部分缓解、一例完全缓解（CR），另一名患者通过同情用药渠道追加一次额外的CAR-T细胞治疗周期后也获得完全缓解。其中一名获得完全缓解的患者已经持续5年无癌。在使用ICT/ICV双重给药的优化治疗方案，并输注优化生产工艺制造的CAR-T疗法的患者亚群中，中位总生存期达到10.2个月，优于复发性GBM患者预期的6个月。◇Iovance Biotherapeutics公司宣布，美国FDA许可该公司继续进行关键性临床试验IOV-LUN-202，评估TIL疗法LN-145治疗晚期经治NSCLC患者的安全性和疗效。该公司的TIL疗法Amtagvi在2月16日获FDA加速批准上市，用于治疗晚期黑色素瘤患者。这是首款获批的TIL疗法，也是首款获批治疗实体瘤的T细胞疗法，是细胞疗法的又一里程碑。IOV-LUN-202试验的初步数据显示一次TIL治疗可提供潜在获益，包括比现有2线化疗可能更持久的缓解。在2023年11月的数据分析显示在确认获得缓解的患者中，71%的患者缓解持续时间超过6个月。◇A2 Biotherapeutics公司宣布，美国FDA已授予该公司开发的潜在“first-in-class”逻辑门控细胞疗法A2B530孤儿药资格，用于治疗肿瘤细胞表达CEA抗原，并且HLA-A*02表达缺失的结直肠癌患者。A2B530是基于该公司独有的技术平台开发的自体逻辑门控细胞疗法，它表达两种嵌合抗原受体（CAR），靶向CEA抗原的CAR会激活T细胞，而靶向HLA-A*02抗原的CAR会抑制T细胞活性。健康细胞由于表达HLA-A*02，不会被A2B530杀伤。而肿瘤细胞不表达HLA-A*02并且表达CEA抗原，将会激活A2B530。这一设计有望在杀伤肿瘤的同时保护健康细胞。目前该公司进行的1/2期临床试验正在进行患者招募。◇Cynata Therapeutics公司宣布，在研细胞疗法CYP-001治疗高风险急性移植物抗宿主病（aGvHD）的2期临床试验完成首例患者给药。CYP-001是该公司开发的一款由诱导多能干细胞分化而成的现货型间充质干细胞疗法。它们通过分泌生物活性分子可以起到免疫调节的作用。在治疗类固醇难治性aGvHD的1期临床试验中，CYP-001已经表现出可喜的安全性和疗效结果。美国FDA已授予其治疗aGvHD的孤儿药资格。◇Capricor Therapeutics公司公布了其主打细胞疗法CAP-1002治疗杜氏肌营养不良症（DMD）2期临床试验HOPE-2的24个月试验结果。CAP-1002是一种从健康供体心肌细胞中获取的基质细胞，具有免疫调节，抗炎症和抗纤维化的能力。试验结果显示，接受CAP-1002治疗的DMD患者24个月时与安慰剂组相比，疾病进展的速度减缓大约64%。CAP-1002同时为心脏功能提供具有临床意义的改善。◇诺华公司公布了治疗脊髓性肌萎缩症（SMA）的基因疗法Zolgensma的最新研究数据。这些数据来自比此前临床研究中入组儿童的年龄和体重更高的患者群体，其中包括曾经接受过其它药物治疗的患者。研究结果显示，几乎所有患者在接受一次性Zolgensma治疗后，达到在52周后维持或者改善运动功能里程碑。大部分曾经长期接受其它疗法治疗的患者停止使用此前接受的治疗。◇REGENXBIO公布了在研基因疗法RGX-202在4至11岁DMD患者中进行的1/2期AFFINITY DUCHENNE试验的额外中期安全性和有效性数据。试验数据显示，接受两种剂量水平的所有四例患者皆完成了在第三个月时的试验评估，分析显示其体内RGX-202微肌营养不良蛋白的表达皆有所增加，并且血清肌酐激酶（CK）水平较基线有所下降，显示该疗法具潜在临床疗效。首位接受剂量水平2治疗的12.1岁患者的数据显示，在三个月时其RGX-202微肌营养不良蛋白表达为标准对照的75.7%，且在十周时观察到患者的血清CK水平较基线降低了77%。◇Grace Science公司宣布，在研基因疗法GS-100的开放标签，1/2/3期临床试验完成首例患者给药。GS-100是一款使用重组AAV9载体，递送人类NGLY1基因的基因疗法，用于治疗NGLY1缺乏症。Grace Science公司的名字来自一名NGLY1缺乏症患者Grace。她的父亲Matt Wilsey先生与诺奖得主Carolyn Bertozzi博士联合创建了Grace Science公司，致力于开发治疗NGLY1缺乏症的基因疗法。相关阅读：当你的疾病无人知晓：致全球3亿名罕见病患者◇拜耳和BlueRock Therapeutics公司报告了双方联合开发的细胞疗法bemdaneprocel治疗帕金森病的1期临床试验最新结果。Bemdaneprocel是一款源于人类胚胎干细胞的多巴胺能神经元前体细胞疗法，它们通过手术被植入到帕金森病患者大脑中，目标是让这些细胞整合到患者大脑网络中，恢复运动和非运动功能。18个月的数据显示，bemdaneprocel表现出良好的耐受性，未发现重大安全性问题。在接受治疗12个月时停止免疫抑制后，移植细胞在18个月时仍然存活并定植于大脑中。探索性临床终点分析显示接受高剂量bemdaneprocel治疗的患者队列与低剂量组相比表现出更好的改善。2期临床试验计划在今年晚些时候开始注册患者。◇Precision BioSciences和iECURE公司宣布，已经获得英国监管机构的许可，在英国展开1/2期临床试验，评估体内基因编辑疗法ECUR-506治疗鸟氨酸转氨甲酰酶（OTC）缺乏症的效果。ECUR-506是一款体内基因编辑疗法，使用两个AAV载体递送不同载荷，一个载体递送ARCUS核酸酶在PCSK9基因位点上进行靶向基因编辑，另一个载体提供插入到这一位点的功能性OTC基因模板。这一疗法的目标是在PCSK9基因位点上通过基因编辑，持续表达OTC。大家都在看作为药明康德旗下专注于细胞和基因疗法的CTDMO，药明生基致力于加速和变革基因和细胞治疗及其他高端治疗的开发、测试、生产和商业化。药明生基能够助力全球客户将更多创新疗法早日推向市场，造福病患。如您有相关业务需求，欢迎点击下方图片填写具体信息。▲如您有任何业务需求，请长按扫描上方二维码，或点击文末“阅读原文/Read more”，即可访问业务对接平台，填写业务需求信息▲欲了解更多前沿技术在生物医药产业中的应用，请长按扫描上方二维码，即可访问“药明直播间”，观看相关话题的直播讨论与精彩回放参考资料：[1] City of Hope-developed Chimeric Antigen Receptor (CAR) T Cell Therapy Shows Clinical Activity in Patients With Aggressive Brain Tumors in a Phase 1 Trial. Retrieved March 7, 2024, from https://www.businesswire.com/news/home/20240307463963/en[2] Precision BioSciences Announces MHRA Approval for Partner iECURE to Expand Phase 1/2 Clinical Trial of ARCUS Gene Editing Program in OTC Deficiency. Retrieved March 8, 2024, from https://www.businesswire.com/news/home/20240306169732/en[3] Antion Biosciences announces latest data and validation of its technology platform through important milestone achievements. Retrieved March 8, 2024, from https://www.globenewswire.com/news-release/2024/03/06/2841232/0/en/Antion-Biosciences-announces-latest-data-and-validation-of-its-technology-platform-through-important-milestone-achievements.html[4] BlueRock Therapeutics phase I clinical trial for Parkinson’s disease continues to show positive trends at 18 months. Retrieved March 8, 2024, from https://www.globenewswire.com/news-release/2024/03/06/2841077/0/en/BlueRock-Therapeutics-phase-I-clinical-trial-for-Parkinson-s-disease-continues-to-show-positive-trends-at-18-months.html[5] GenSight Biologics Announces Update on Real-World Data from Early Access Programs of LUMEVOQ® Gene Therapy at NANOS 2024. Retrieved March 8, 2024, from https://www.businesswire.com/news/home/20240305810568/en[6] Grace Science, LLC Announces First Patient Treated in Phase 1/2/3 Trial of GS-100, an AAV9 Gene Therapy for NGLY1 Deficiency. Retrieved March 8, 2024, from https://www.businesswire.com/news/home/20240304132147/en[7] REGENXBIO ANNOUNCES NEW POSITIVE INITIAL EFFICACY DATA FROM AFFINITY DUCHENNE® TRIAL. Retrieved March 8, 2024, from https://www.prnewswire.com/news-releases/regenxbio-announces-new-positive-initial-efficacy-data-from-affinity-duchenne-trial-302079525.html[8] Novartis presents new data on safety and efficacy of Zolgensma, including maintained and improved motor milestones in older and heavier children with SMA. Retrieved March 8, 2024, from https://www.globenewswire.com/news-release/2024/03/04/2839221/0/en/Novartis-presents-new-data-on-safety-and-efficacy-of-Zolgensma-including-maintained-and-improved-motor-milestones-in-older-and-heavier-children-with-SMA.html[9] Capricor Therapeutics Presents at 2024 Muscular Dystrophy Association (MDA) Clinical & Scientific Conference. Retrieved March 8, 2024, from https://www.globenewswire.com/news-release/2024/03/06/2841425/0/en/Capricor-Therapeutics-Presents-at-2024-Muscular-Dystrophy-Association-MDA-Clinical-Scientific-Conference.html[10] First Patient Treated in Phase 2 GvHD Trial. Retrieved March 8, 2024, from https://www.prnewswire.com/news-releases/first-patient-treated-in-phase-2-gvhd-trial-302079209.html[11] Iovance Biotherapeutics Announces FDA has Lifted Clinical Hold on the IOV-LUN-202 Registrational Trial in Non-Small Cell Lung Cancer. Retrieved March 8, 2024, from https://www.globenewswire.com/news-release/2024/03/04/2839362/0/en/Iovance-Biotherapeutics-Announces-FDA-has-Lifted-Clinical-Hold-on-the-IOV-LUN-202-Registrational-Trial-in-Non-Small-Cell-Lung-Cancer.html免责声明：药明康德内容团队专注介绍全球生物医药健康研究进展。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：本文来自药明康德内容团队，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

细胞疗法免疫疗法临床1期基因疗法上市批准

2024-03-05

·BioSpace

Grace Science, LLC Announces First Patient Treated in Phase 1/2/3 Trial of GS-100, an AAV9 Gene Therapy for NGLY1 Deficiency

MENLO PARK, Calif.--(BUSINESS WIRE)-- Grace Science, LLC announced today that the first patient was dosed in an open-label Phase 1/2/3 clinical trial of GS-100, an AAV9 gene replacement therapy for the treatment of NGLY1 Deficiency. Part 1/2 of the study will investigate dose-escalation and the safety and efficacy of a single intracerebroventricular (ICV) infusion of GS-100 in NGLY1 Deficiency patients aged 2-18 years. Part 3 of the study will assess the co-primary outcomes at 52 weeks following treatment at the selected dose: 1) change from baseline of the NGLY1 Deficiency Primary Disease Activity Biomarker, GlcNAc-Asn (GNA, or N-acetylglucosamine) in cerebrospinal fluid, and 2) change from baseline in the motor subdomain of the Bayley Scales of Infant and Toddler Development, Fourth Edition (BSID-4). Further details regarding the Phase 1/2/3 study can be found at . Matt Wilsey, CEO & Co-Founder of Grace Science, LLC, stated that "Treating the first patient is a tremendous milestone for our company and the NGLY1 Deficiency patients we strive to cure. We believe this drug will improve the lives of individuals living with this devastating disease. Time is precious as our community has lost sixteen individuals since January of 2020.” “This study is a true partnership between the scientific community and the NGLY1 patient community,” said Carolyn Bertozzi, Co-Founder of Grace Science, LLC. Dr. Bertozzi went on to say “The team has worked incredibly hard to reach the goal of treating the first NGLY1 Deficiency patient with this potentially life-changing therapy. We are so thankful to the patients and their families for helping Grace Science turn this treatment into a reality.” About GS-100 GS-100 is a recombinant, single-stranded AAV9 vector that encodes a full-length version of the human NGLY1 gene. GS-100 was previously granted Orphan Drug Designation (ODD) by both the FDA and the European Medicine Agency (EMA) in 2021, Rare Pediatric Disease Designation by the FDA in 2021, and Fast Track Designation by the FDA in 2023. About NGLY1 Deficiency NGLY1 Deficiency is a serious, life-threatening disease with no approved therapy. Patients with this disease suffer from debilitating symptoms that present early in life, including global developmental delay, cognitive impairment, (hypo)alacrima, movement disorders, and other neurological symptoms. About Grace Science Grace Science, LLC is a biotechnology company founded in 2017 by Matt Wilsey and Dr. Carolyn Bertozzi to develop novel therapies based on the function of NGLY1, a key enzyme involved in proteostasis. The company’s deep knowledge of the NGLY1 pathway is key to its ability to identify new ways of treating NGLY1 Deficiency as well as more common diseases. For more information about Grace Science, LLC and NGLY1 Deficiency, please visit gracescience.com.

孤儿药快速通道基因疗法临床研究