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Report of gene therapy in animal model of GSD5.

A step forward in gene therapy for McArdle disease

A paper just accepted in Human Molecular Genetics has reported on the successful delivery of a gene therapy in the mouse model of McArdle disease.

The team from Australia, Spain and France, write:

Using a preclinical animal model, we aimed to identify a clinically translatable and relevant therapy for McArdle disease. We evaluated the safety and efficacy of recombinant adeno-associated virus serotype 8 (rAAV8) to treat a murine model of McArdle disease via delivery of a functional copy of the disease-causing gene, Pygm. Intraperitoneal injection of rAAV8-Pygm at post-natal day 1–3 resulted in Pygm expression at 8 weeks of age, accompanied by improved skeletal muscle architecture, reduced accumulation of glycogen and restoration of voluntary running wheel activity to wild-type levels. We did not observe any adverse reaction to the treatment at 8 weeks post-injection.

The researchers have demonstrated a highly promising gene therapy for McArdle disease in the mouse model, with the expectation that this development can now go on to a trial in the sheep model endemic to Western Australia. Subsequently to that, it may go on to a trial in humans.




Read the abstract of the paper here.