Clinical trials: Glycogen Metabolism
Neuromuscular Disorders
Prospective Follow-up of Patients With Glycogen Storage Disease Type III
The aim of this study is to improve knowledge of natural history and methods of monitoring the evolution of Glycogen storage disease type III regarding the muscle and to study the prospective approach of large series of patients…
- Trial name
- PRO GSDIII (NCT01563705)
- Testing
- Different motor function tests, Manual dexterity assessment
- Where
- France
- Volunteers
- 30 people
- Sponsor
- Institut de Myologie, France
Pompe Disease
Frequency of Pompe Disease in Patients With Myalgia With or Without Hyper Ckemia - Data From the Reference Center (CERCA)
Pompe's disease is a lysosomal storage disease of autosomal recessive genetic transmission due to a deficiency in acid alpha glucosidase.
- Trial name
- POEM (NCT05092230)
- Where
- Martinique
- Volunteers
- 100 people
- Sponsor
- University Hospital Center of Martinique
Cardiac Glycogenosis, Cardiomyopathy
ATR 1072 in Participants With PRKAG2 Syndrome
ATR 1072 is an investigational medicine being studied in adults with PRKAG2 Syndrome. This study will evaluate the safety of ATR 1072 and how the body processes the drug.
- Conditions
- Cardiac Glycogenosis, Cardiomyopathy, Hypertrophic, Wolff-Parkinson-White Syndrome
- Trial name
- NCT07738107
- Testing
- ATR 1072
- Where
- United States
- Volunteers
- 37 people
- Sponsor
- Atrium Therapeutics
Pompe Disease (Late-onset)
Evaluation of the Safety and Efficacy of Late-onset Pompe Disease Gene Therapy Drug
This study is being conducted to evaluate the safety and effectiveness of GC301 adeno-associated virus vector expressing codon-optimized human acid alpha-glucosidase (GAA) as potential gene therapy for Pompe disease.
- Trial name
- NCT06391736
- Testing
- GC301
- Where
- China
- Volunteers
- 33 people
- Sponsor
- GeneCradle Inc
Danon Disease
Natural History of Danon Disease
This is a multicenter, international, non-interventional, natural history study designed to collect longitudinal retrospective clinical information on patients with Danon disease (DD).
- Trial name
- NCT05548855
- Testing
- Heart Transplant, Cardiac Assistive Device
- Where
- 15 sites in Czechia, France and 3 more
- Volunteers
- 59 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Glycogen Storage Disease Type III
Study to Evaluate Biomarkers and Clinical Manifestations in Individuals With Glycogen Storage Disease Type III (GSD III)
The primary objective of this study is to evaluate potential biomarkers of GSD III.
- Trial name
- NCT04574830
- Testing
- No Intervention
- Where
- 4 sites in United States
- Volunteers
- 18 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Pompe Disease (Late-onset)
Phase II Clinical Trial of Clenbuterol in Adult Patients With Pompe Disease
The goals of this study are to determine safety and efficacy with regard to motor function of oral clenbuterol in combination with ERT in subjects with LOPD
- Trial name
- NCT04094948
- Testing
- Clenbuterol
- Where
- United States
- Sponsor
- Duke University
Pompe Disease, Pompe Disease (Late-onset)
A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE)
The purpose of this study is to evaluate the safety, tolerability, and efficacy of a single intravenous infusion of SPK-3006 in adults with clinically moderate, late-onset Pompe disease receiving enzyme replacement therapy (ERT).
- Conditions
- Pompe Disease, Pompe Disease (Late-onset), Glycogen Storage Disease Type 2, Glycogen Storage Disease Type II
- Trial name
- NCT04093349
- Testing
- SPK-3006
- Where
- 29 sites in United States, Canada and 6 more
- Volunteers
- 4 people
- Sponsor
- Spark Therapeutics, Inc.
Glycogen Storage Disease Type 2, Dystrophia Myotonica
An MRI Study on Muscular Diseases -Pompe Disease and Dystrophia Myotonica-
The aim of the project is to develop new Magnetic Resonance (MR) imaging techniques for better diagnosis and monitoring of patients with muscular disorders.
- Trial name
- NCT02708784
- Where
- 2 sites in Denmark
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Pompe Disease
Immune Modulation Therapy for Pompe Disease
The purpose of this study is to assess anti-recombinant human acid α-glucosidase (anti-rhGAA) antibody titers after treatment with immune modulation therapy in patients of Pompe disease.
- Trial name
- NCT02525172
- Testing
- Rituximab, intravenous immune globulin, Bortezomib
- Where
- Taiwan
- Volunteers
- 8 people
- Sponsor
- National Taiwan University Hospital
Pompe Disease, Muscle Weakness
Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease.
The purpose of this research study is to determine if exercise will help improve muscle strength, endurance, and quality of life in individuals with Pompe disease.
- Trial name
- ExercisPompe (NCT02654886)
- Testing
- Resistance Exercise Training
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- University of California, Irvine
Pompe's Disease
Prevalence of Pompe's Disease in Respiratory Clinics
Pompe's disease is a very rare condition which causes weakness of the respiratory muscles and may therefore cause symptoms of breathlessness or even respiratory failure, requiring the use of a ventilator at night.
- Trial name
- PURF (NCT02527239)
- Testing
- Prospective observational study
- Volunteers
- 400 people
- Sponsor
- Royal Brompton & Harefield NHS Foundation Trust
Pompe Disease, Glycogen Storage Disease Type II (GSD-II)
Immune Tolerance Induction Study
An exploratory, open-labeled study of participants with Pompe disease, who had previously received Myozyme® (alglucosidase alfa) treatment, to evaluate the efficacy, safety and clinical benefit of 2 Immune Tolerance Induction…
- Conditions
- Pompe Disease, Glycogen Storage Disease Type II (GSD-II), Glycogenesis 2 Acid Maltase Deficiency
- Trial name
- NCT00701701
- Testing
- Myozyme® (alglucosidase alfa)
- Where
- 5 sites in United States, Israel
- Volunteers
- 4 people
- Sponsor
- Genzyme, a Sanofi Company
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
Genetic Disease, Inborn Errors of Metabolism
Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders
The goal of this study is to identify and characterize novel non-coding and splicing variants that may contribute to genetic disorders.
- Conditions
- Genetic Disease, Inborn Errors of Metabolism, Glycogen Storage Disease, Lysosomal Storage Diseases
- Trial name
- NCT04399694
- Where
- United States
- Volunteers
- 56 people
- Sponsor
- Duke University
Pompe Disease
Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)
The purpose of this study is to evaluate the safety, pharmacodynamics (PD), and exploratory clinical efficacy of S-606001 in adult participants with LOPD as an add-on to ERT.
- Trial name
- NCT07123155
- Testing
- S-606001
- Where
- 28 sites in United States, Belgium and 7 more
- Volunteers
- 45 people
- Sponsor
- Shionogi
Pompe Disease, Glycogen Storage Disease Type II
A Study to Evaluate the Effects of Pharmacological Chaperones in Cells From Patients With Pompe Disease
The purpose of this study is to see how molecules called pharmacological chaperones affect the cells of patients with Pompe disease.
- Trial name
- NCT00515398
- Testing
- Observation
- Where
- 4 sites in United States
- Volunteers
- 30 people
- Sponsor
- Amicus Therapeutics
Glycogen Storage Disease
A Study of mRNA-3745 in Adult and Pediatric Participants With Glycogen Storage Disease Type 1a (GSD1a)
The main goal of this trial is to evaluate the safety and tolerability of mRNA-3745 via intravenous (IV) administration in adult and pediatric participants with GSD1a.
- Trial name
- NCT05095727
- Testing
- mRNA-3745
- Where
- 16 sites in United States, Canada and 4 more
- Volunteers
- 15 people
- Sponsor
- ModernaTX, Inc.
Glycogen Storage Disease Type I
The Use of Uncooked Sweet Manioc Starch to Treat Hepatic Glycogen Storage Diseases
Hepatic Glycogen Storage Diseases are a group of 10 serious genetic diseases that present in childhood and are characterized more frequently by the occurrence of repetitive hypoglycemia and dyslipidemia.
- Trial name
- NCT03871673
- Testing
- Sweet manioc starch, Cornstarch
- Where
- Brazil
- Volunteers
- 11 people
- Sponsor
- Hospital de Clinicas de Porto Alegre
Type 1 Diabetes
Oral Galactose as a Substrate for Post-Exercise Skeletal Muscle Glycogen Repletion in Individuals With Type 1 Diabetes
This Ph.D. project investigates whether orally ingested galactose can be taken up by skeletal muscle and the heart in response to exercise or hyperinsulinemia, and whether it may serve as a viable nutritional strategy for…
- Trial name
- NCT07774780
- Testing
- galactose
- Where
- 2 sites in Denmark
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- University of Aarhus