EFFICACY AND SAFETY EVALUATION OF LEAD GENE THERAPY CANDIDATE IN NEUROMUSCULAR JUNCTION (NMJ) DISEASE MOUSE MODELS AND BIOANALYTICAL ASSAY METHODS DEVELOPMENT

国家先进翻译科学中心(NCATS)通过其罕见和被忽视疾病的治疗(TRND)计划，正在与美国国立神经疾病和中风研究所(NINDS)合作，推进腺相关病毒基因疗法作为先天性肌无力综合征(CMS)的可能治疗方案。本任务订单的总体目标是评估NINDS先前开发的神经肌肉连接(NMJ)病小鼠模型中AAV转基因基因治疗候选方案的有效性和安全性，以及开发生物分析测试方法以测量转基因表达导致的生物分布和电生理终点。 神经肌肉接头(NMJ)病小鼠模型和生物分析方法开发中候选基因治疗的有效性和安全性评估。

The National Center for Advancing Translational Sciences (NCATS), through its Therapeutics for Rare and Neglected Diseases (TRND) program, is collaborating with the National Institutes of Neurological Disorders and Stroke (NINDS) to advance Adeno-associated virus gene therapy candidates as possible treatments for Congenital Myasthenic Syndromes (CMS). The overall objective of this task order is for the contractor to evaluate the efficacy and safety of AAV transgene gene therapy candidates in neuromuscular junction (NMJ) disease mouse models, previously developed at NINDS, and bioanalytical assay methods development to measure biodistribution and electrophysiology endpoints resulting from transgene expression. Efficacy and Safety Evaluation of gene therapy candidates in a Neuromuscular Junction (NMJ) disease mouse model and bioanalytical assay methods development.