Clinical Trial Planning in Pompe Disease

描述（由申请方提供）：庞贝氏症（糖原累积病II型;酸性麦芽糖酶缺乏症; MIM 232300）是一种由横纹肌和平滑肌中的酸性α-葡糖苷酶（GAA）缺乏症引起的肌病。重组人GAA酶替代疗法的局限性促进了庞贝氏症基因疗法的临床前开发。这项申请的目标是在成人中开展基因治疗的临床试验 庞贝氏症活动将包括建立多个地点，为第一和第二阶段临床试验招募足够数量的受试者;制定研究方案;编写机构审查委员会方案;获得机构生物安全委员会的批准;为潜在参与者制定招募计划;为提交研究性新药申请准备所有文件;制定安全性监测计划，以最大限度地降低风险，制定不良事件报告系统;制定开展和完成临床试验的预算和时间轴。这项临床试验计划项目将导致一个ND被提交给食品和药物管理局的基因治疗庞贝氏症。

DESCRIPTION (provided by applicant): Pompe disease (glycogen storage disease type II; acid maltase deficiency; MIM 232300) is a myopathy that results from acid a-glucosidase (GAA) deficiency in striated and smooth muscle. The limitations of enzyme replacement therapy with recombinant human GAA have prompted the preclinical development of gene therapy for Pompe disease. The goal of this application is to launch a clinical trial of gene therapy in adults with Pompe disease. Activities will include establishing multiple sites to recruit adequate numbers of subjects for Phase I and II clinical trials; develop a study protocol; prepare the institutional review board protocol; obtain institutional biosafety committee approval; develop a recruitment plan for potential participants; prepare all documents for the filing of an investigational new drug (IND) application; develop a safety monitoring plan to minimize risk, develop a system for reporting adverse events; and to formulate a budget and timeline for conduct and completion of the clinical trial. This clinical trial planning project will lead to an ND being submitted to the Food and Drug Administration for gene therapy in Pompe disease.