Glycogen Storage Disease, McArdle Disease, Pompe Disease (Late-onset)
Conditions
Brief summary
The project will use carbon-13 magnetic resonance spectroscopy to assess whether high glycogen levels in skeletal muscle of patients with Glycogen Storage Diseases is a prelude for muscle damage. Patients with Glycogen Storage Diseases will be examined using carbon-13 MR-spectroscopy to quantify the glycogen levels in lumbar, thigh and calf-muscles. The pattern of glycogen concentration will be compared to the pattern of muscle atrophy found in the literature.
Interventions
OTHERNo intervention
No intervention
Sponsors
Danish Research Center for Magnetic Resonance
Rigshospitalet, Denmark
Study design
Observational model
OTHER
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* Subjects with genetically verified neuromuscular disease or healthy control * Healthy controls needs to be healthy to be included, evaluated by the investigator
Exclusion criteria
* Ferrous objects in or around the body * Pacemaker or other implanted electronic devices * Claustrophobia * Inability to understand the purpose of the trial or corporate for the conduction of the experiments. * Participation in other trials that may interfere with the results. * Competing conditions at risk of compromising the results of the study, evaluated by the investigator. * Strenuous exercise in the preceding 2 days before examination * Pregnancy or breastfeeding
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Glycogen concentration | Day 1 | 1. The difference in muscle glycogen between patients and controls 2. The difference in muscle glycogen between different muscle groups in patients. |
Countries
Denmark
Outcome results
None listed