Gene therapy for preserving the visual system in lysosomal storage diseases
在溶酶体贮积病中保护视觉系统的基因疗法
基本信息
- 批准号:10815994
- 负责人:
- 金额:$ 6.2万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2021
- 资助国家:美国
- 起止时间:2021-05-01 至 2025-03-31
- 项目状态:未结题
- 来源:
- 关键词:AffectBlindnessCLN2 geneCNS degenerationCentral Nervous SystemCerebrospinal FluidChildClinicDevelopmentDiseaseEnzymesGene Transduction AgentInjectionsLifeLysosomal Storage DiseasesMediatingMutationNervous System PhysiologyNeuronal Ceroid-LipofuscinosisResearchRetinaRetinal DegenerationRetinal gene therapySafetyTestingTissuesVisionVisualVisual PathwaysVisual Systemcanine modelenzyme replacement therapygene therapynull mutationpreclinical studypreservationpreventtripeptidyl aminopeptidase
项目摘要
PROJECT SUMMARY
The primary objective of the proposed research is to evaluate the safety and efficacy of AAV-
mediated gene therapy for preventing the progressive retinal and central nervous system (CNS)
degeneration in a canine model of CLN2 neuronal ceroid lipofuscinosis (NCL), particularly as they
relate to functional vision. CLN2 disease results from deficiency of the soluble lysosomal enzyme
tripeptidyl peptidase-1 (TPP1) caused by mutations in TPP1. Dachshunds with a null mutation in
TPP1 were used in preclinical studies that supported development of CNS enzyme replacement
therapy (ERT) that has been successful in preserving neurological function in affected children.
Unfortunately, this treatment does not prevent retinal degeneration or the resulting blindness in
CLN2 disease. In addition, ERT treatments require long clinic-based intracerebroventricular
injections every other week for life. Using the dog model, studies will be conducted to test the
hypothesis that combined one-time intravitreal and intra-cerebrospinal fluid administration of AAV-
TPP1 gene therapy vectors will prevent retinal degeneration and degeneration of the visual centers
of the CNS and preserve functional vision, setting the stage for testing this treatment in children
with CLN2 disease.
项目摘要
拟议研究的主要目的是评估AAV-100的安全性和有效性。
用于预防进行性视网膜和中枢神经系统(CNS)的介导的基因疗法
在CLN 2神经元蜡样质脂褐质沉积症(NCL)的犬模型中的变性,特别是当它们
与功能性视觉有关。CLN 2疾病由可溶性溶酶体酶缺乏引起
三肽基肽酶-1(TPP 1)由TPP 1突变引起。在基因组中有无效突变的腊肠
TPP 1用于临床前研究,支持开发CNS酶替代品
ERT治疗(ERT)已成功地保留了受影响儿童的神经功能。
不幸的是,这种治疗不能防止视网膜变性或由此导致的失明,
CLN 2疾病此外,ERT治疗需要长时间的基于临床的脑室内
每隔一周注射一次使用狗模型,将进行研究以测试
假设联合一次性玻璃体内和脑脊液内施用AAV-
TPP 1基因治疗载体将预防视网膜变性和视觉中枢变性
的中枢神经系统和保护功能性视力,为测试这种治疗在儿童中的阶段
CLN 2疾病
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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MARTIN L KATZ的其他文献
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{{ truncateString('MARTIN L KATZ', 18)}}的其他基金
Gene therapy for preserving the visual system in lysosomal storage diseases
在溶酶体贮积病中保护视觉系统的基因疗法
- 批准号:
10613482 - 财政年份:2021
- 资助金额:
$ 6.2万 - 项目类别:
Gene therapy for preserving the visual system in lysosomal storage diseases
在溶酶体贮积病中保护视觉系统的基因疗法
- 批准号:
10393698 - 财政年份:2021
- 资助金额:
$ 6.2万 - 项目类别:
Gene therapy for preserving the visual system in lysosomal storage diseases
在溶酶体贮积病中保护视觉系统的基因疗法
- 批准号:
10208440 - 财政年份:2021
- 资助金额:
$ 6.2万 - 项目类别:
Prevention of Retinal Degeneration by Transgenic Autologous Stem Cells
通过转基因自体干细胞预防视网膜变性
- 批准号:
9131739 - 财政年份:2014
- 资助金额:
$ 6.2万 - 项目类别:
Prevention of Retinal Degeneration by Transgenic Autologous Stem Cells
通过转基因自体干细胞预防视网膜变性
- 批准号:
8750557 - 财政年份:2014
- 资助金额:
$ 6.2万 - 项目类别:
Prevention of Retinal Degeneration by Transgenic Autologous Stem Cells
通过转基因自体干细胞预防视网膜变性
- 批准号:
8916751 - 财政年份:2014
- 资助金额:
$ 6.2万 - 项目类别:
Prevention of Retinal Degeneration by Transgenic Autologous Stem Cells
通过转基因自体干细胞预防视网膜变性
- 批准号:
9335857 - 财政年份:2014
- 资助金额:
$ 6.2万 - 项目类别:
Mesenchymal Stem Cells for Treatment of Retinal Diseases
间充质干细胞治疗视网膜疾病
- 批准号:
7727533 - 财政年份:2009
- 资助金额:
$ 6.2万 - 项目类别:
Canine Model of Late-Infantile Neuronal Ceroid Lipofuscinosis for Therapy Develop
用于治疗的晚期婴儿神经元蜡质脂褐质沉积症犬模型的开发
- 批准号:
7816810 - 财政年份:2009
- 资助金额:
$ 6.2万 - 项目类别:
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