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Active, Not Recruiting

NCT Number: NCT04929002

Carbon-13 Magnetic Resonance Spectroscopy in Glycogen Storage Diseases

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Glycogen Storage Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Glycogen Storage Disease Type II Glycogen Storage Disease Type V Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System McArdle Disease Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Pompe Disease (Late-onset)

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Neuromuscular Research Unit, 8077

Copenhagen, Copenhange, DK-2100, Denmark

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

No intervention

Other

No intervention

Primary outcomes

  1. Glycogen concentration

    Time frame: Day 1

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

Sponsors and collaborators

Lead sponsor

Rigshospitalet, Denmark

Other

Collaborators

  • Danish Research Center for Magnetic Resonance

Registry information

Official study title

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.

Important dates

Study start
2021
Primary completion
2028
Study completion
2028
First posted
Jun 18, 2021
Registry last updated
Aug 11, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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