Clinical trials: Glycogen Storage Disease Type V
Glycogen Storage Disease, McArdle Disease
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.
- Conditions
- Glycogen Storage Disease, McArdle Disease, Pompe Disease (Late-onset)
- Trial name
- NCT04929002
- Testing
- No intervention
- Where
- Denmark
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Becker Muscular Dystrophy, McArdle Disease
Fast Troponin as a Biomarker to Assess Exercise-induced Muscle Damage in Muscle Diseases
The purpose of the study is to explore the biomarker Fast Troponins response to exercise in patients with Becker muscular dystrophy, Limb-girdle muscular dystrophy and McArdle disease
- Conditions
- Becker Muscular Dystrophy, McArdle Disease, Limb-Girdle Muscular Dystrophy Type 2
- Trial name
- NCT04349566
- Where
- Denmark
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Mads Peter Godtfeldt Stemmerik
McArdle Disease
Oral Ketone Body Supplementation in Patients With McArdle Disease
McArdle disease, glycogen storage disease type V, is a rare metabolic disease. Affected individuals are unable to utilize sugar stored as glycogen in muscle.
- Trial name
- GSDV (NCT03945370)
- Testing
- β-hydroxybuturate esters
- Where
- Denmark
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Glycogen Storage Disease Type V
MRI in McArdle Disease (GSDV)
The aim of this study is to describe the degree of muscle wasting in patients with McArdle disease judged by MRI, quantitative magnetic resonance (DIXON) and T1 weighted images, and muscle strength, collected across multiple…
- Trial name
- NCT03844022
- Testing
- MRI
- Where
- Denmark
- Volunteers
- 87 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Metabolism, Inborn Errors, Lipid Metabolism, Inborn Errors
Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
This study aims to characterize the pathophysiological mechanisms of 21 different metabolic myopathies. The study will focus on exercise capacity and the metabolic derangement during exercise.
- Conditions
- Metabolism, Inborn Errors, Lipid Metabolism, Inborn Errors, Carbohydrate Metabolism, Inborn Errors, Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
- Trial name
- NCT02635269
- Testing
- Sugar
- Where
- Denmark
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet