Gene transfer for Duchenne Muscular Dystrophy

该项目代表了与Robert Kotin博士的密切合作，Robert Kotin博士设计了编码小核糖核蛋白的腺相关病毒载体，用于Duchenne肌营养不良症异常营养不良蛋白转录本的外显子跳过治疗。他已经在小动物模型中展示了有效性。他还开发了这些高质量病毒载体的大规模制造能力。 这项合作代表着将这项技术转化为人类治疗的尝试，主要是以晚期Duchenne肌营养不良为特征的心肌病，其次是呼吸肌功能障碍。我们正在探索多种基因转移的方法，包括动脉内和心内膜途径，利用我们实验室开发的先进图像引导技术。我们已经为这些实验制定了良好的实验室实践监管基础设施。目前正在进行在大型哺乳动物模型中测试安全性和有效性的实验。

This project represents a close collaboration with Dr Robert Kotin, who has designed adeno associated viral vectors encoding small ribonucleoproteins for exon-skipping therapy of aberrant dystrophin transcripts in Duchenne Muscular Dystrophy. He has shown efficicacy in small animal models. He also has developed large scale manufacturing capability of these high quality viral vectors. The collaboration represents an attempt to translate this technology into human treatment, primarily of cardiomyopathy characterizing late Duchenne Muscular Dystrophy, and secondarily the respiratory muscle dysfunction. We are exploring multiple approaches to gene transfer including intraarterial and endomyocardial routes, exploiting the advanced image guidance technologies developed in our laboratories. We have developed a Good Laboratory Practice regulatory infrastructure for these experiments. Experiments are now underway to test safety and efficacy in a large mammal model.