Using carbon-13 MRI to study glycogen levels in muscle for glycogen storage diseases

Using 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.

This study is testing if a special type of MRI can measure glycogen levels in the muscles of people with Glycogen Storage Diseases to see if high levels might mean muscle damage.

Quick facts

• Study type: Observational
• Enrollment: 50 (estimated)
• Ages: 18 Years and up
• Sex: All
• Sponsor: Rigshospitalet, Denmark (Academic / other)
• Locations: 1 site (Copenhagen, Copenhange)
• Trial ID: NCT04929002 on ClinicalTrials.gov

What this trial studies

This observational study aims to utilize carbon-13 magnetic resonance spectroscopy to measure glycogen levels in the skeletal muscles of patients diagnosed with Glycogen Storage Diseases, including McArdle Disease and late-onset Pompe Disease. By quantifying glycogen concentrations in the lumbar, thigh, and calf muscles, the study seeks to determine if elevated glycogen levels are indicative of potential muscle damage. The findings will be compared to existing literature on muscle atrophy patterns associated with these conditions.

Who should consider this trial

Good fit: Ideal candidates include individuals with genetically verified glycogen storage diseases or healthy controls who meet the study's inclusion criteria.

Not a fit: Patients with ferrous objects in their body, pacemakers, or those who are claustrophobic may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could enhance understanding of muscle damage mechanisms in glycogen storage diseases, potentially leading to improved patient management.

How similar studies have performed: While the use of carbon-13 MR-spectroscopy is a novel approach in this context, similar studies have shown promise in assessing metabolic conditions.

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

Where this trial is running

Copenhagen, Copenhange

• Neuromuscular Research Unit, 8077 — Copenhagen, Copenhange, Denmark (Recruiting)

Study contacts

• Study coordinator: Mads Stemmerik, MD

Conditions Glycogen Storage Disease; McArdle Disease; Pompe Disease