Carbon-13 Magnetic Resonance Spectroscopy in Glycogen Storage Diseases

Last updated: August 6, 2025
Sponsor: Rigshospitalet, Denmark
Overall Status: Active - Not Recruiting

Phase

N/A

Condition

Glycogen Storage Disease (Gsd)

Liver Disorders

Pompe Disease

Treatment

No intervention

Clinical Study ID

NCT04929002
7TMRS in GSD
  • Ages > 18
  • All Genders
  • Accepts Healthy Volunteers

Study 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.

Eligibility Criteria

Inclusion

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

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 ofthe experiments.

  • Participation in other trials that may interfere with the results.

  • Competing conditions at risk of compromising the results of the study, evaluated bythe investigator.

  • Strenuous exercise in the preceding 2 days before examination

  • Pregnancy or breastfeeding

Study Design

Total Participants: 50
Treatment Group(s): 1
Primary Treatment: No intervention
Phase:
Study Start date:
December 10, 2021
Estimated Completion Date:
December 31, 2028

Connect with a study center

  • Neuromuscular Research Unit, 8077

    Copenhagen, Copenhange DK-2100
    Denmark

    Site Not Available

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