Carbon-13 Magnetic Resonance Spectroscopy in Glycogen Storage Diseases

Launched by RIGSHOSPITALET, DENMARK · Jun 9, 2021

Keywords

ClinConnect Summary

This clinical trial is looking at how high levels of glycogen, a type of sugar stored in muscles, might be related to muscle damage in patients with certain Glycogen Storage Diseases, like McArdle Disease and late-onset Pompe Disease. Researchers will use a special imaging technique called carbon-13 magnetic resonance spectroscopy (or carbon-13 MR-spectroscopy) to measure glycogen levels in the muscles of participants. They will compare these measurements to existing research on muscle wasting, which is when muscles become weaker and smaller.

To participate, individuals must be between the ages of 65 and 74 and have a confirmed diagnosis of a neuromuscular disease, or they can be healthy volunteers. However, people with certain conditions, like having metal implants or severe anxiety about enclosed spaces (claustrophobia), or those who are pregnant or breastfeeding, won't be eligible. Participants can expect to undergo a non-invasive test that involves lying still while their muscle glycogen levels are measured, helping researchers understand more about how these diseases affect muscle health.

Gender

ALL

Eligibility criteria

• 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