Saturation transfer MRI of creatine, phosphocreatine and glycogen in patients with Charcot-Marie-Tooth (CMT) disease

Motivation: There remains an unmet need for sensitive biomarkers for CMT disease progression. Goal(s): To explore the feasibility of evaluating CMT1A progression based on saturation transfer imaging of phosphocreatine, creatine, and glycogen at 5T. Approach: Phosphocreatine and total creatine were detected via CEST effects at +2.6 ppm and +2.0 ppm of Z-spectrum, respectively, and glycogen was measured by relayed nuclear Overhauser effects at -1.0 ppm. Results: Preliminary results showed an apparent decrease of PCrCEST and glycoNOE signals in the calf muscles of CMT1A patients, with the extent of signal reduction correlating with CMT1A severity. Impact: Simultaneous monitoring of Cr, PCr and glycogen in muscle holds potential for tracking CMT progression and may offer a promising non-invasive approach for monitoring muscular disorders in humans.