Carbon-13 Magnetic Resonance Spectroscopy in Glycogen Storage Diseases

Recruiting

• Conditions: Glycogen Storage Disease; McArdle Disease; Pompe Disease (Late-onset)
• Interventions: Other: No intervention

• Registration Number: NCT04929002
• Lead Sponsor: Rigshospitalet, Denmark

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2021-06-03
• Study First Submitted QC: 2021-06-09
• Study First Posted: 2021-06-18
• Study Start: 2021-12-10
• Status Verified: 2024-04
• Last Update Submitted: 2024-04-16
• Last Update Posted: 2024-04-17
• Primary Completion: 2025-05
• Study Completion: 2026-05

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 50

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Controls	No intervention	-
McArdle Disease	No intervention	-
Pompe disease	No intervention	-

Primary Outcome Measures

Name	Time	Method
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 Locations

Locations (1)

Neuromuscular Research Unit, 8077; 🇩🇰 Copenhagen, Copenhange, Denmark