P.142 Improving FSHD RNAi gene therapy using myotropic MyoAAVs

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant or digenic disorder affecting more than 870,000 people worldwide. FSHD is caused by de-repression of the toxic DUX4 gene in skeletal muscle. There are currently no approved treatments for FSHD, but several promising DUX4-inhibition therapies are under development. Previously, our lab published pre-clinical efficacy and safety studies for a DUX4-targeted RNAi-based gene therapy using an artificial microRNA called mi405. In unpublished data, we performed dose-finding studies in FSHD animal models, demonstrated inhibition of human DUX4-associated biomarkers in xenografts, confirmed long-term expression in vivo, and characterized the biodistribution of two lead AAV vector serotypes (AAV6& AAV9).
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research