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A Phase I Study of the Safety of AAV2/8 LSPhGAA in Late-onset Pompe Disease

AAV2/8 LSPhGAA 在晚发性庞贝病中的安全性 I 期研究

基本信息

批准号：
9309362
负责人：
Dwight D Koeberl
金额：
$ 37.1万
依托单位：
DUKE UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
2017
资助国家：
美国
起止时间：
2017-09-05 至 2020-06-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9309362
关键词：
Acids Address Adult Advisory Committees Antibodies Antibody Formation Antibody Response Biological Markers Clinical Clinical Investigator Clinical Protocols Clinical Research Clinical Trials Data Development Dose Glucan 1,4-alpha-Glucosidase Glycogen Glycogen storage disease type II Goals Health Benefit Hemophilia B Human Immune response Immunoblotting Infusion procedures Institutes Investigational Drugs Investigational New Drug Application Liver Measurement Mediating Medical Monitor Muscle Myocardium Myopathy Outcome Patients Phase I Clinical Trials Plasma Production Public Health Publications Pulmonary function tests Rare Diseases Recombinant DNA Recombinants Research Institute Research Personnel Safety Scientist Skeletal Muscle Smooth Muscle Specialist Striated Muscles Testing Toxic effect United States Food and Drug Administration Walking adeno-associated viral vector base clinical translation clinically significant curative treatments design dosage enzyme replacement therapy gene therapy gene therapy clinical trial glucosidase human subject improved infancy mortality novel therapeutics phase 1 study pre-clinical preclinical development receptor safety study uptake urinary vector

项目摘要

Project Summary The development of gene therapy has advanced to a point where a cure for Pompe disease can be foreseen. Pompe disease (glycogen storage disease type II; acid maltase deficiency) is a devastating myopathy resulting from acid alpha-glucosidase (GAA) deficiency in striated and smooth muscle. Despite the availability of enzyme replacement therapy (ERT) with recombinant human (rh) GAA, many patients have poor outcomes including mortality due to clinically significant anti-GAA antibody response. The limitations of ERT have prompted the preclinical development of gene therapy for Pompe disease. Clinical translation of efficacious gene therapy will greatly advance treatment for Pompe disease by correcting GAA deficiency and suppressing immune responses against rhGAA.

项目概要基因疗法的发展已经达到可以治愈庞贝病的程度。庞贝病（II 型糖原累积病；酸性麦芽糖酶缺乏症）是一种破坏性肌病，由横纹肌和平滑肌中酸性α-葡萄糖苷酶（GAA）缺乏所致。尽管有可用的使用重组人 (rh) GAA 进行酶替代疗法 (ERT)，许多患者预后不佳包括因临床显着的抗 GAA 抗体反应而导致的死亡。 ERT 的局限性有促进了庞贝病基因治疗的临床前开发。有效的临床转化基因疗法将通过纠正 GAA 缺陷并抑制针对 rhGAA 的免疫反应。