NCT05943678Active, not recruiting
Novel Metabolic Muscular Biomarkers in Pompe Disease - a Non-invasive Magnetic Resonance Exploratory Pilot Study.
Novel Metabolic Muscular Biomarkers in Pompe Disease - a Non-invasive
Source: ClinicalTrials.gov · Last updated 26 Aug 2025
Brief summary (registry, in English)
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.
- Status (registry)
- Active, not recruiting
- Study type
- Observational
- Enrollment
- 30 (estimated)
- First submitted
- 5 Jul 2023
- Start date
- 15 Aug 2023
- Primary completion date
- 15 Aug 2028
- Lead sponsor
- Medical University of Vienna
- Diseases
- Pompe disease
- NCT number
- NCT05943678
What you commit to
- Study type: Observational
- Planned participants: 30
- From 15 Aug 2023 to the primary completion date, 15 Aug 2028
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- pregnancy (will be assessed prior to MRS measurements using a rapid pregnancy test)
- pregnancy (will be assessed prior to MRS measurements using a rapid pregnancy test)
Other illness
- Patients with PoD and McArdle disease:
- 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
- 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.
Other
- Involvement of the respiratory musculature
- claustrophobia
- active participation in another clinical trial
- special diets especially ketogenic or atkins diet
- creatine supplementation
- claustrophobia
- active participation in another clinical trial
Who the study is looking for
- 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
Age in the registry: 18 years to 70 years · Sex: All
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Medical University of Vienna Coordinator of this site? Confirm its status | Vienna | Austria | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.