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:10208440
- 负责人:
- 金额:$ 37.99万
- 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:AffectAge-MonthsBinding ProteinsBlindnessBloodBrainCLN2 geneCNS degenerationCanis familiarisCell FractionCell membraneCell surfaceCellsCerebrospinal FluidChildClinicClinicalCountyDNADevelopmentDiseaseDisease modelDistantDog DiseasesEndocytosisEndoplasmic ReticulumEndosomesEnzymesExtracellular SpaceEyeGene Transduction AgentGenesGoalsGolgi ApparatusHumanInfusion proceduresInjectionsLifeLongevityLysosomal Storage DiseasesLysosomesMediatingMethodsModelingMutationNervous System PhysiologyNeuraxisNeurologicNeurologic SignsNeuronal Ceroid-LipofuscinosisOrganPathologyPathway interactionsPatientsPeriodicityProteinsRecombinant ProteinsRecombinantsResearchRetinaRetinal DegenerationRetinal gene therapySafetySiteStructureSystemTestingTimeTissuesVariantVisionVisualVisual PathwaysVisual system structureVitreous humoradductbasecellular transductionearly childhoodefficacy testingend stage diseaseenzyme replacement therapyfollow-upgene therapyin vivointravitreal injectionlysosomal proteinsmannose 6 phosphatenull mutationpreclinical studypreservationpreventreceptortargeted deliverytripeptidyl aminopeptidaseuptake
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-bases 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.
项目总结
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其他文献
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:
10815994 - 财政年份:2021
- 资助金额:
$ 37.99万 - 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:
10613482 - 财政年份:2021
- 资助金额:
$ 37.99万 - 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:
$ 37.99万 - 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:
$ 37.99万 - 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:
$ 37.99万 - 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:
$ 37.99万 - 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:
$ 37.99万 - 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:
$ 37.99万 - 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:
$ 37.99万 - 项目类别: