Clinical trials: GSD VII
Dermatomyositis, Glycogen Storage Disease Type II
Genetic and Family Studies of Inherited Muscle Diseases
The purposes of this study are to identify gene mutations in patients with the muscle diseases phosphofructokinase (PFK) deficiency, acid maltase deficiency (GAA deficiency) and to learn more about how these diseases develop.
- Conditions
- Dermatomyositis, Glycogen Storage Disease Type II, Glycogen Storage Disease Type VII, Myositis
- Trial name
- NCT00001331
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Tarui Disease, Debrancher Deficiency
The Effect of Triheptanoin on Fatty Acid Oxidation and Exercise Tolerance in Patients With Glycogenoses
The aim of this study is to investigate the effect of 14 days of treatment with the dietary oil-supplement Triheptanoin on fat metabolism and exercise tolerance in patients with Phosphofructokinase deficiency, Debrancher…
- Conditions
- Tarui Disease, Debrancher Deficiency, GYG1 DEFICIENCY
- Trial name
- NCT03642860
- Testing
- Triheptanoin
- Where
- Denmark
- Volunteers
- 3 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, GSD Type 0A
Rare Glycogen Storage Diseases Natural History Study
The purpose of this study is to collect and study key medical data about several ultra-rare GSDs (Glycogen Storage Diseases) including, but not limited to, GSD types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome and Danon…
- Conditions
- Glycogen Storage Disease, GSD Type 0A, GSD Type 0B, GSD VII
- Trial name
- NCT06795152
- Testing
- No intervention
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Duke University
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