Carbon-13 Magnetic Resonance Spectroscopy in Glycogen Storage Diseases

N/AActive Not RecruitingNCT04929002

Rigshospitalet, Denmark50 enrolled

Overview

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 Type

OBSERVATIONAL

Enrollment

Conditions

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

Interventions

No interventionOTHER

No intervention

Eligibility

Sex: ALLMin age: 18 YearsHealthy volunteers:

Medical Language ↔ Plain English

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

Locations (1)

Neuromuscular Research Unit, 8077

Copenhagen, Copenhange, Denmark

Outcomes

Primary Outcomes

Glycogen concentration

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

Time frame: Day 1

Data from ClinicalTrials.gov

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