Carbon-13 Magnetic Resonance Spectroscopy in Glycogen Storage Diseases

August 6, 2025 updated by: Mads Peter Godtfeldt Stemmerik, Rigshospitalet, Denmark

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.

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.

Study Overview

Status

Active, not recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

50

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Denmark
    • Copenhange
      • Copenhagen, Copenhange, Denmark, DK-2100
        • Neuromuscular Research Unit, 8077

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Patients with Pompe or McArdle disease and healthy controls

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Other
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Controls
Other: No intervention
No intervention
McArdle Disease
Other: No intervention
No intervention
Pompe disease
Other: No intervention
No intervention

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Glycogen concentration
Time Frame: Day 1
  1. The difference in muscle glycogen between patients and controls
  2. The difference in muscle glycogen between different muscle groups in patients.
Day 1

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Rigshospitalet, Denmark

Collaborators

Danish Research Center for Magnetic Resonance

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

December 10, 2021

Primary Completion (Estimated)

May 1, 2028

Study Completion (Estimated)

December 1, 2028

Study Registration Dates

First Submitted

June 3, 2021

First Submitted That Met QC Criteria

June 9, 2021

First Posted (Actual)

June 18, 2021

Study Record Updates

Last Update Posted (Actual)

August 11, 2025

Last Update Submitted That Met QC Criteria

August 6, 2025

Last Verified

August 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 7TMRS in GSD

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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