Clinical trials: Glycogen Storage Disease Type V
McArdle Disease
Modified Ketogenic Diet in Patients With McArdle Disease Part B
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
- NCT04044508
- Testing
- Ketocal 4:1 liquid Nutricia (intervention)
- Where
- 2 sites in Denmark, United Kingdom
- Volunteers
- 20 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- 2 sites in United States, Australia
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Muscular Dystrophies
The Efficacy of Using Far Infrared Radiation to Manage Muscular Dystrophies
The muscular dystrophies (MD) are a group of more than 30 neuromuscular disorders that are characterized by progressive skeletal muscle weakness, defects in muscle proteins and the death of muscle cells and tissue.
- Trial name
- NCT00674843
- Testing
- Far Infrared Radiation
- Where
- Canada
- Volunteers
- 4 people
- Sponsor
- GAAD Medical Research Institute Inc.
Pompe Disease, McArdle Disease
Novel Metabolic Muscular Biomarkers in Pompe Disease - a Non-invasive Magnetic Resonance Exploratory Pilot Study.
Previous studies have indicated that 13C-MRS in the ultra-high 7T magnetic resonance (MR) field is a potential non-invasive measurement method for assessing changes in muscle glycogen levels in PoD patients.
- Trial name
- POMPE (NCT05943678)
- Testing
- Siemens Magnetom 7T Plus
- Where
- Austria
- Volunteers
- 30 people
- Sponsor
- Medical University of Vienna
Glycogen Storage Disease Type V, McArdle Disease
Sodium Valproate for GSDV
McArdle disease is a metabolic myopathy characterised by the absence of glycogen phosphorylase in skeletal muscle. Sodium Valproate is part of a group of drugs known as histone deacetylase inhibitors, which have a direct effect…
- Trial name
- NCT03112889
- Testing
- Sodium Valproate
- Where
- 2 sites in Denmark, United Kingdom
- Volunteers
- 8 people
- Sponsor
- University College, London
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
Glycogen Storage Disease
Glycosade v UCCS in the Dietary Management of Hepatic GSD
To compare efficacy of Glycosade® with uncooked corn starch (UCCS for the dietary management of hepatic glycogen storage diseases (GSD).
- Trial name
- Glyde (NCT02318966)
- Testing
- Medical Food - Glycosade
- Where
- 6 sites in United States, France and 2 more
- Volunteers
- 61 people
- Sponsor
- Vitaflo International, Ltd
McArdle Disease
A Study of the Safety of REN001 in Patients With McArdle Disease
The purpose of this study is to assess REN001 safety in subjects with McArdle Disease
- Trial name
- NCT04226274
- Testing
- REN001
- Where
- 2 sites in Spain, United Kingdom
- Volunteers
- 19 people
- Sponsor
- Reneo Pharma Ltd
Glycogen Storage Disease Type V
The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V)
Background: Patients with the sugar metabolism disorder, Glycogen Storage Disease Type V, have insufficient breakdown of sugar stored as, glycogen, within the cells.
- Trial name
- NCT02432768
- Testing
- Triheptanoin
- Where
- Denmark
- Volunteers
- 22 people
- 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
Glycogen Storage Disease
McArdle Disease Treatment by Ketogenic Diet
McArdle's disease or Glycogen storage disease type 5 (GSD5), the most common muscle glycogenosis, is a rare disabling condition with no effective treatment.
- Trial name
- NCT04292938
- Testing
- Low carbohydrate ketogenic diet
- Where
- Italy
- Volunteers
- 16 people
- Sponsor
- IRCCS Eugenio Medea
McArdle Disease
Ketogenic Diet Survey in Patients With McArdle Disease (GSDV)
The purpose of this survey is to report experiences with variants of a ketogenic diet in a group of individuals diagnosed with McArdle disease (glycogen storage disease type V).
- Trial name
- NCT04694547
- Testing
- There is no intervention, as this is a survey study
- Where
- Denmark
- Volunteers
- 200 people
- Sponsor
- Nicoline Løkken
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
Nemaline Myopathy Type 6, Myotonic Dystrophy Type 2
Muscle Relaxation in Myopathies With Positive Muscle Phenomena
The aim of this study is to quantify muscle relaxation properties of the finger flexor muscles in patients with different myopathies.
- Conditions
- Nemaline Myopathy Type 6, Myotonic Dystrophy Type 2, McArdle Disease
- Trial name
- NCT03211923
- Testing
- Transcranial magnetic stimulation (TMS)
- Volunteers
- 30 people
- Sponsor
- Radboud University Medical Center
Fructose Metabolism, Inborn Errors, Glycogen Storage Disease
Biomarker for Glycogen Storage Diseases (BioGlycogen)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Glycogen Storage Diseases from plasma. Testing for clinical robustness, specificity and long-term stability of the biomarker.
- Conditions
- Fructose Metabolism, Inborn Errors, Glycogen Storage Disease, Glycogen Storage Disease Type I, Glycogen Storage Disease Type II
- Trial name
- BioGlycogen (NCT02385162)
- Where
- 4 sites in Germany, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
McArdle Disease
Modified Ketogenic Diet in Patients With McArdle Disease Part A
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
- NCT03843606
- Testing
- Modified ketogenic diets
- Where
- Denmark
- Volunteers
- 11 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Glycogen Storage Disease Type V
Triheptanoin in Mc Ardle
Background: Patients with the sugar metabolism disorder, Glycogen Storage Disease Type V, have insufficient breakdown of sugar stored as, glycogen, within the cells.
- Trial name
- NCT02919631
- Testing
- Triheptanoin
- Where
- France
- Volunteers
- 12 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
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