Novel Metabolic Muscular Biomarkers in Pompe Disease - a Non-invasive Magnetic Resonance Exploratory Pilot Study.

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.

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Key information

Conditions

Pompe Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Glycogen Storage Disease Glycogen Storage Disease Type II Glycogen Storage Disease Type V Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System McArdle Disease Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases

Age range

18 year–70 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Medical University of Vienna

Vienna, State of Vienna, 1090, Austria

Who can participate

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Patients with PoD and McArdle disease:

age between 18-70
Confirmed diagnosis: enzyme activity and/or genetic testing
body weight > 40kg at screening
6-minute walking distance > 75m at screening (only PoD patients)
Sitting FCV ≥ 30% predicted (only PoD patients)
"Informed Consent" issued orally and in writing

Healthy volunteers (controls):

age between 18-70

Exclusion criteria

Patients with PoD and McArdle disease:

pregnancy (will be assessed prior to MRS measurements using a rapid pregnancy test)
Involvement of the respiratory musculature
claustrophobia
active participation in another clinical trial
metal devices or other magnetic material in or on the subjects body which will be hazardous for NMR investigation [heart pacemaker, coronary stents and heart valves (in case these devices are not compatible with a 7T MRI), brain (aneurysm) clip, nerve stimulators, electrodes, ear implants, penile implants, colored contact lenses, patch to deliver medications through the skin, coiled spring intrauterine device, vascular filter for blood clots, orthodontic braces, shunt-spinal or ventricular, any metal implants (rods, joints, plates, pins, screws, nails, or clips), embolization coil, or any metal fragments or shrapnel in the body.

Healthy volunteers (controls):

any known endocrine, metabolic or neurological disorder
special diets especially ketogenic or atkins diet
creatine supplementation
pregnancy (will be assessed prior to MRS measurements using a rapid pregnancy test)
claustrophobia
active participation in another clinical trial
metal devices or other magnetic material in or on the subjects body which will be hazardous for NMR investigation [heart pacemaker, coronary stents and heart valves (in case these devices are not compatible with a 7T MRI), brain (aneurysm) clip, nerve stimulators, electrodes, ear implants, penile implants, colored contact lenses, patch to deliver medications through the skin, coiled spring intrauterine device, vascular filter for blood clots, orthodontic braces, shunt-spinal or ventricular, any metal implants (rods, joints, plates, pins, screws, nails, or clips), embolization coil, or any metal fragments or shrapnel in the body.

Treatment and study plan

Siemens Magnetom 7T Plus

Device

Magnetic Resonance Spectroscopy

Primary outcomes

muscle glycogen concentration

Time frame: 12 months

Secondary outcomes

muscle phospho-mono-ester concentration (PME)

Time frame: 12 months

Sponsors and collaborators

Lead sponsor

Medical University of Vienna

Other

Registry information

Official study title

Novel Metabolic Muscular Biomarkers in Pompe Disease - a Non-invasive

Acronym: POMPE

Important dates

Study start: 2023
Primary completion: 2028
Study completion: 2028
First posted: Jul 13, 2023
Registry last updated: Aug 26, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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