Exploring muscle metabolism in Pompe and McArdle diseases using advanced MRI techniques
Novel Metabolic Muscular Biomarkers in Pompe Disease - a Non-invasive
This study is testing a special MRI technique to see if it can help measure muscle energy levels in people with Pompe and McArdle diseases compared to healthy volunteers.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 30 (estimated) |
| Ages | 18 Years to 70 Years |
| Sex | All |
| Sponsor | Medical University of Vienna Academic / other |
| Locations | 1 site (Vienna) |
| Trial ID | NCT05943678 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate the use of 31P-Magnetic Resonance Spectroscopy (MRS) to non-invasively measure muscle glycogen levels and metabolic changes in patients with Pompe Disease (PoD) and McArdle Disease. By utilizing a Siemens Magnetom 7T Plus MRI system, the study seeks to assess the sensitivity of this technique in monitoring disease progression and quantifying glycogen levels. The study includes both patients diagnosed with these conditions and healthy volunteers for comparison, focusing on age and weight-related differences in muscle metabolism.
Who should consider this trial
Good fit: Ideal candidates include adults aged 18-70 with a confirmed diagnosis of Pompe Disease or McArdle Disease.
Not a fit: Patients with respiratory muscle involvement or those who are pregnant may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide a new non-invasive method for monitoring disease progression in patients with Pompe and McArdle diseases.
How similar studies have performed: Previous studies have shown promising results using similar MRS techniques in animal models and other glycogen storage diseases, indicating potential for success in this approach.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Vienna
- Medical University of Vienna — Vienna, Austria (Recruiting)
Study contacts
- Study coordinator: Thomas Scherer, Assoc.Prof. PD Dr.
- Email: thomas.scherer@meduniwien.ac.at
- Phone: +4314040043121
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.