Carbon-13 Magnetic Resonance Spectroscopy in Glycogen Storage Diseases

NCT ID: NCT04929002

Last Updated: 2025-08-11

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Total Enrollment

50 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-12-10

Study Completion Date

2028-12-31

Brief Summary

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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

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Conditions

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

Study Design

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Observational Model Type

OTHER

Study Time Perspective

PROSPECTIVE

Study Groups

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McArdle Disease

No intervention

Intervention Type OTHER

No intervention

Pompe disease

No intervention

Intervention Type OTHER

No intervention

Controls

No intervention

Intervention Type OTHER

No intervention

Interventions

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No intervention

No intervention

Intervention Type OTHER

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Danish Research Center for Magnetic Resonance

UNKNOWN

Sponsor Role collaborator

Rigshospitalet, Denmark

OTHER

Sponsor Role lead

Responsible Party

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Mads Peter Godtfeldt Stemmerik

PhD-student, MD

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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Neuromuscular Research Unit, 8077

Copenhagen, Copenhange, Denmark

Site Status

Countries

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Denmark

Other Identifiers

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7TMRS in GSD

Identifier Type: -

Identifier Source: org_study_id

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