Clinical Trial Planning in Pompe Disease

描述(申请人提供)：Pompe病(第二型糖原储存疾病；酸性麦芽糖酶缺乏症；MIM 232300)是一种肌肉病，由横纹肌和平滑肌中的酸性a-葡萄糖苷酶缺乏引起。重组人GAA酶替代疗法的局限性推动了Pompe病基因治疗的临床前发展。这个应用程序的目标是在成人中启动一项基因治疗的临床试验。 患有庞培病。活动将包括建立多个地点，为第一阶段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协议；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；准备提交试验性新药(IND)申请的所有文件；制定安全监测计划，以将风险降至最低；开发不良事件报告系统；以及制定进行和完成临床试验的预算和时间表。这一临床试验计划项目将导致ND被提交给食品和药物管理局，用于庞培病的基因治疗。

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.