Published Research Alert: CAPN3 gene therapy improves muscles function in a mouse model of limb-girdle muscular dystrophy type 2A/R1 (LGMD2A/R1)

Coalition to Cure Calpain 3 (C3) is pleased to announce the publication of important research undertaken by Dr. Zarife Sahenk, Dr. Jerry Mendell, and colleagues at Nationwide Children’s Hospital in Columbus, Ohio. The paper, titled “Systemic delivery of AAVrh74.tMCK.hCAPN3 rescues the phenotype in a mouse model for LGMD2A/R1,” was published in Molecular Therapy: Methods & Clinical Development.

The group used AAV-mediated gene therapy to deliver the human CAPN3 gene to a mouse model of LGMD2A/R1. Mice at 2- and 5-months of age were treated with low and high doses of the gene therapy. The group found that mice treated with either dose and at either age were able to run further on a treadmill than mice that were not treated with gene therapy. Microscopic evaluation of the muscles showed that treatments improved the structure of the muscles. Importantly, safety studies showed no evidence of toxicity in any organs.

C3 Scientific Director Dr. Jennifer Levy states, “I am encouraged by these promising results. Individuals with LGMD2A/R1 are an underserved population with limited treatment options. This study suggests that gene therapy may be a safe approach to improve muscle function in these patients.”

This work was funded in part by the C3 Gene Therapy Initiative.

Experimental design of Dr. Sahenk’s project.
(Graphic source: Molecular Therapy: Methods & Clinical Development)

Click here to read the article on the journal website

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