An observational study in Pompe Disease and McArdle Disease, sponsored by Medical University of Vienna. Active, not recruiting at 1 site in Austria. Open to participants aged 18 Years to 70 Years. Per ClinicalTrials.gov, last updated 2025-08-26.
Sponsored by Medical University of Vienna · Observational
Previous studies have indicated that 13C-MRS in the ultra-high 7T magnetic resonance (MR) field is a potential non-invasive measurement method for assessing changes in muscle glycogen levels in PoD patients. However, in a single study, increases in glycogen intermediates were observed using the even more sensitive 31P-MRS technique in a mouse model of PoD and in glycogen storage disease III in humans. In fact, glycolytic intermediates such as phosphomonoesters (PME), measured by phosphorus-31P-MRS in PoD mouse models, were superior to 13C-MRS in monitoring disease progression and quantifying glycogen, indicating a significant clinical potential of 31P-MRS in humans. It has been shown that 31P-MRS can reliably quantify age- and weight-related differences as well as changes in thyroid function in human muscle metabolism. This study conducted by our institute demonstrates that the technique possesses the necessary sensitivity to measure these subtle muscular metabolic changes. However, there are currently no human 31P-MRS muscle data available for PoD. Therefore, we propose a proof-of-principle study to address this knowledge gap and contribute to establishing a new sensitive muscular biomarker that quantifies the primary disease mechanism, namely glycogen formation, for future longitudinal studies on PoD.
151 studies on the registry are indexed under Glycogen Storage Disease Type II; 30 are open to participants now.
This study's planned enrollment of 30 is below the median of 50 across 62 observational studies indexed under Glycogen Storage Disease Type II.
Browse Glycogen Storage Disease Type II studies →Medical University of Vienna is the lead sponsor of 1,076 studies on the registry; 177 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Adult patients diagnosed with Pompe or McArdle Disease based on enzyme activity and/or genetic testing
Healthy individuals will serve as controls
Patients with PoD and McArdle disease:
Healthy volunteers (controls):
Exclusion criteria
Patients with PoD and McArdle disease:
Healthy volunteers (controls):
negative controls
Device: Siemens Magnetom 7T Plus
Device: Siemens Magnetom 7T Plus
positiv controls
Device: Siemens Magnetom 7T Plus
Magnetic Resonance Spectroscopy
muscle glycogen concentration
Time frame: 12 months
muscle phospho-mono-ester concentration (PME)
Time frame: 12 months
Plan to share: No
This study is active, not recruiting, as verified in Aug 2025. You cannot join it, but the record below documents what was studied.
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Glycogen Storage Disease Type II→
Medical University of Vienna