Abstract #1530

Mapping human skeletal muscle glycogen in Pompe disease patients

Qing Zeng^1,2, Glenn A. Walter³, Peter C.M. van Zijl^1,2, Manuela Corti⁴, Matthew S. Gentry^5,6, Ramon C. Sun^5,6, Barry J. Byrne⁴, and Nirbhay N. Yadav^1,2

¹Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD, United States, ²F.M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Institute, Baltimore, MD, United States, ³Department of Physiology and Functional Genomics, University of Florida, Gainesville, FL, United States, ⁴Department of Pediatrics, University of Florida, Gainesville, FL, United States, ⁵Department of Biochemistry & Molecular Biology, College of Medicine, University of Florida, Gainesville, FL, United States, ⁶Center for Advanced Spatial Biomolecule Research, University of Florida, Gainesville, FL, United States

Synopsis

Keywords: Muscle, Rare disease, metabolism, molecular imaging

Motivation: Pompe disease is a glycogen storage disease which leads to abnormal glycogen accumulation in tissues such as skeletal muscle, but there is a lack of suitable noninvasive methods to assess disease progression and treatment response.

Goal(s): To develop an MRI method for assessing glycogen levels in skeletal muscle of Pompe disease patients.

Approach: We used glycoNOE MRI to detect glycogen and quantified signals using a Voigt and polynomial hybrid lineshape fitting model.

Results: The glycoNOE signals showed significantly higher glycoNOE contrast in skeletal muscle for Pompe patients compared to the control (p < 0.0001).

Impact: Glycogen level is an import marker for Pompe disease. Our proposed method is expected to be a useful tool for assessing disease progression and treatment response in Pompe disease and other glycogen storage diseases.

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