Long-term effects of systemic gene therapy in a canine model of myotubular myopathy.

ABSTRACT:

Introduction

X-linked myotubular myopathy (XLMTM), a devastating pediatric disease caused by the absence of the protein myotubularin, results from mutations in the MTM1 gene. While there is no cure for XLMTM, we previously reported effects of MTM1 gene therapy using adeno-associated virus (AAV) vector on muscle weakness and pathology in MTM1-mutant dogs. Here, we followed 2 AAV-infused dogs over 4 years.

Methods

We evaluated gait, strength, respiration, neurological function, muscle pathology, AAV vector copy number (VCN), and transgene expression.

Results

Four years following AAV-mediated gene therapy, gait, respiratory performance, neurological function and pathology in AAV-infused XLMTM dogs remained comparable to their healthy littermate controls despite a decline

SUBMITTER: Elverman M 

PROVIDER: S-EPMC5620115 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature