Mapping human skeletal muscle glycogen in Pompe disease patients

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.