http://regenxbio.com/business_development/recent_research/ en dan.hoerr@idfive.com Copyright 2014 2014-02-05T14:27:42+00:00 X-linked myotobular myopathy is a fatal pediatric disease of skeletal muscle, for which there is no effective treatment. This paper demonstrates that intravascular administration of AAV8 encoding myotubularin prolonged survival in both mouse and dog models of the disease, providing proof of concept to support future clinical trials.

]]> 2014-02-05T14:27:42+00:00 The authors demonstrate that AAV5 is not suitable for proof-of-concept studies in rat disease models in which the liver needs to be transduced. Despite its relative efficiency in mouse and non-human primate liver, transduction of rat liver is low. In contrast, AAV8 remains suitable for liver-directed studies in rodents as well as primates.

]]> 2014-01-13T20:43:54+00:00 This paper describes intralingual delivery of AAV9 in Pompe mice to treat lingual dysfunction. There was robust and persistent transduction of tongue myofibers and motoneurons, and increased body weight over the course of the study.

]]> 2013-12-29T22:21:53+00:00 A review of shRNA, miRNA, and miRNA decoys and their use in therapeutic applications when expressed from recombinant AAV vectors (AAV8 and AAV9), which includes preclinical and clinical studies.

]]> 2013-12-29T22:18:33+00:00 This study was performed to support a proposed clinical trial to evaluate AAV8 gene therapy for familial hypercholesterolemia (FH). It describes the biodistribution data following intravenous delivery of AAV8 in the mouse model of FH.

]]> 2013-10-04T15:52:49+00:00 This study demonstrates that AAV8 transduces the cones of the pig retina as well as AAV9. Efficacy was dependent on the promoter selected. Subsequently, AAV8 was shown to restore cone function in the mouse model of Leber congenital amaurosis type 1 (LCA1), confirming the utility of AAV8 in gene therapy of diseases affecting both rods and cones.

]]> 2013-10-04T15:46:23+00:00 The mouse model of amyotrophic lateral sclerosis (ALS), like the human disease, has proven very difficult to treat. In this study, AAV9 was used to deliver an shRNA to reduce superoxide dismutase 1 (SOD1) gene expression in the mutant SOD1G93A mouse. This not only increased survival when delivered at birth, it also significantly slowed disease progression after disease onset in the mouse model. This suggests that the therapeutic may be beneficial in the familial forms of ALS that are caused by SOD1 mutations, and may also be beneficial in some patients with sporadic disease.

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