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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