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Abstract #0089

13C/31P MRS biomarkers of disease progression and response to gene therapy in a mouse model of Pompe disease

Celine Baligand1, Gary A. Todd2, Brittany Lee-McMullen3, Ravneet S. Vohra4, Barry J. Byrne2, Darin J. Falk2, and Glenn A. Walter5

1Department of Radiology, Leiden University Medical Center, C.J. Gorter Center for High-field MRI, Leiden, Netherlands, 2Department of Pediatrics, University of Florida, Gainesville, FL, United States, 3Department of Genetics, Stanford School of Medicine, Stanford, CA, United States, 4Department of Radiology, University of Washington, Seattle, WA, United States, 5Department of Physiology and Functional Genomics, University of Florida, Gainesville, FL, United States

With the emergence of rAAV-based gene therapy clinical trials in patients with glycogen storage disorders such as Pompe disease, there is a pressing need for early and non-invasive markers to assess treatment efficacy. While 13C-MRS has been used for detection of glycogen in muscle, its clinical implementation remains limited, due to its low natural abundance and inherent low sensitivity. 31P-MRS has higher sensitivity and can probe intermediates of glucose/glycogen metabolism. We sought to identify new biomarkers of Pompe disease progression in muscle using 13C/31P-MRS and 1H-HR-MAS in the mouse model of the disease, and tested their sensitivity to rAAV therapy.

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