P.367Comparative analysis of single stranded rAAV vectors expressing human SMN1 in correcting spinal muscular atrophy in mice

Spinal muscular atrophy (SMA) is the most frequent genetic cause of infant death. It is an autosomal recessive neuromuscular disorder due to mutations in the SMN1 gene, leading to a selective loss of spinal cord -motor neurons and proximal muscle weakness. Remarkable progress has been made in the last years on the development of therapeutic approaches for SMA, including gene therapy. In particular, intravenous administration of self-complementary (sc) recombinant AAV9-SMN1 vectors have shown efficacy in several animal models and a clinical trial in type 1 SMA patients.

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: M. Marinello, J. Denard, V. Latournerie, D. Bonnin, J. Cosette, S. Martin, A. Buj-Bello Source Type: research