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.
Eligibility
Sex
ALL
Min age
18 Years
Max age
—
Healthy volunteers
Accepted
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
Primary outcome measure(s)
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.
Trial sites (1)
Facility
City
Region
Status
Neuromuscular Research Unit, 8077
Copenhagen
Copenhange
More Copenhagen University Hospital, Rigshospitalet trials in Denmark
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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