Phase
Condition
Pompe Disease
Glycogen Storage Disease (Gsd)
Treatment
Siemens Magnetom 7T Plus
Clinical Study ID
Ages 18-70 All Genders
Study Summary
Eligibility Criteria
Inclusion
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.
Study Design
Connect with a study center
Medical University of Vienna
Vienna, 1090
AustriaActive - Recruiting
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