Gene transfer for Duchenne Muscular Dystrophy

National Heart, Lung, And Blood Institute

Investigators

Abstract

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.