Carbon-13 Magnetic Resonance Spectroscopy in Glycogen Storage Diseases

NCT04929002 | Active Not Recruiting

• 1 other identifier: 7TMRS in GSD
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

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.

Conditions

Glycogen Storage Disease; McArdle Disease; Pompe Disease (Late-onset)

Outcome Measures

Primary Outcomes (1)

• Glycogen concentration

  1. The difference in muscle glycogen between patients and controls 2. The difference in muscle glycogen between different muscle groups in patients.

  Day 1

Study Arms (3)

McArdle Disease

Other: No intervention

Pompe disease

Other: No intervention

Controls

Other: No intervention

Interventions

No intervention OTHER

No intervention

Controls; McArdle Disease; Pompe disease

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with Pompe or McArdle disease and healthy controls

You may qualify if:

• Subjects with genetically verified neuromuscular disease or healthy control
• Healthy controls needs to be healthy to be included, evaluated by the investigator

You may not qualify if:

• 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

Sponsors & Collaborators

• Rigshospitalet, Denmark: lead
• Danish Research Center for Magnetic Resonance: collaborator

Study Sites (1)

Neuromuscular Research Unit, 8077

Copenhagen, Copenhange, DK-2100, Denmark

Location

MeSH Terms

Conditions

Glycogen Storage Disease; Glycogen Storage Disease Type V; Glycogen Storage Disease Type II

Condition Hierarchy (Ancestors)

Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Lysosomal Storage Diseases

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: PhD-student, MD

Study Record Dates

• First Submitted: June 3, 2021
• First Posted: June 18, 2021
• Study Start: December 10, 2021
• Primary Completion (Estimated): May 1, 2028
• Study Completion (Estimated): December 1, 2028
• Last Updated: August 11, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

DK (1)