Clinical trials: Glycogen Metabolism
Energy Supply; Deficiency, Energy Balance
Effects of Acute Energy Deficit and Aerobic Exercise on Muscle Quality
10 healthy, male, participants will complete a a 5-day baseline assessment (days -5 to -1) and two consecutive 5-day periods of controlled exercise to increase oxidative capacity (3 days of aerobic exercise per period, 15 kcal/kg…
- Conditions
- Energy Supply; Deficiency, Energy Balance, Energy Availability
- Trial name
- NCT05203133
- Testing
- Energy Balance, Energy Deficit, Baseline Assessment
- Where
- United Kingdom
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Liverpool John Moores University
Pompe Disease
Safety and Efficacy of Clenbuterol in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replacement Therapy
Funding Source- FDA OOPD The purpose of this study is to investigate the safety and efficacy of clenbuterol on motor function in individuals with late-onset Pompe disease (LOPD) who are treated with enzyme replacement therapy…
- Trial name
- NCT01942590
- Testing
- Clenbuterol
- Where
- United States
- Volunteers
- 17 people
- Sponsor
- Dwight Koeberl, M.D., Ph.D.
Pompe Disease (Late-onset)
A Study About Antibody Levels and Biomarkers in the Blood in People With Late-onset Pompe Disease
Pompe disease is a genetic condition which causes muscle weakness over time. People with Pompe disease have a faulty gene that makes an enzyme called acid alpha-glucosidase (or GAA).
- Trial name
- NCT06150820
- Testing
- No Intervention
- Where
- 53 sites in United States, Australia and 9 more
- Volunteers
- 119 people
- Sponsor
- Astellas Gene Therapies
Adult Polyglucosan Body Disease, Glycogen Brancher Enzyme Deficiency
Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease
The purpose of the study is to determine if triheptanoin is an effective treatment for the symptoms of Adult Polyglucosan Body Disease.
- Conditions
- Adult Polyglucosan Body Disease, Glycogen Brancher Enzyme Deficiency, Glycogen Storage Disease Type IV
- Trial name
- NCT00947960
- Testing
- Triheptanoin, Vegetable Oil
- Where
- France
- Volunteers
- 23 people
- Sponsor
- Baylor Research Institute
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
Pompe Disease, Glycogen Storage Disease Type II (GSD II)
Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease
The primary objective of this study was to characterize the pharmacokinetics (PK) of alglucosidase alfa manufactured at the 4000 L scale in participants who had a confirmed diagnosis of Pompe disease.
- Trial name
- PAPAYA (NCT01410890)
- Testing
- alglucosidase alfa
- Where
- 12 sites in United States, Bulgaria and 4 more
- Volunteers
- 21 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease
An Extension Study of S-606001 in Participants With Late-onset Pompe Disease (LOPD)
The primary purpose of this study is to evaluate the long-term safety and tolerability profile of S-606001 in participants with LOPD.
- Trial name
- NCT07750990
- Testing
- S-606001, ERT
- Volunteers
- 60 people
- Sponsor
- Shionogi
Pompe Disease
Pompe Disease QMUS and EIM
Study Objectives: 1. Determine the correlation between quantitative muscle ultrasound (QMUS), electrical impedance myography (EIM) and currently accepted measures of physical function. 2.
- Trial name
- NCT02742298
- Testing
- Muscle ultrasound, Electrical Impedance Myography
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Duke University
Pompe Disease
Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease
This is a longitudinal natural history study of Infantile Pompe disease. The investigators will regularly collect and review medical information regarding the diagnosis of Pompe disease, response to enzyme replacement (ERT) using…
- Trial name
- NCT01665326
- Testing
- Observational
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- Duke University
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
Glycogen Storage Disease Type II (GSD-II), Pompe Disease (Late-onset)
Pompe Pregnancy Sub-Registry
This Sub-registry is a multicenter, international, longitudinal, observational, and voluntary program designed to track pregnancy outcomes for any pregnant woman enrolled in the Pompe Registry, regardless of whether she is…
- Conditions
- Glycogen Storage Disease Type II (GSD-II), Pompe Disease (Late-onset), Glycogenesis 2 Acid Maltase Deficiency
- Trial name
- NCT00567073
- Where
- 35 sites in United States, Australia and 7 more
- Volunteers
- 20 people
- Sponsor
- Genzyme, a Sanofi Company
Enzyme Replacement Therapy in Pompe Disease
Cardiopulmonary Exercise Test to Quantify Enzyme Replacement Response in Pediatric Pompe Disease
Introduction: Enzyme replacement therapy (ERT) with Myozyme improved the prospect of Pompe disease patients. Our aim was to evaluate ERT acute effect on exercise capacity in pediatric Pompe patients.
- Trial name
- NCT03147664
- Volunteers
- 5 people
- Sponsor
- Rambam Health Care Campus
Glycogen Storage Disease, Pompe Disease
Pompe Lactation Sub-Registry
The objective is to determine if alglucosidase alfa is present in breast milk from mothers with Pompe Disease being treated with alglucosidase alfa and to measure breast milk production and composition in women with Pompe Disease…
- Trial name
- NCT00566878
- Testing
- alglucosidase alfa
- Where
- 2 sites in United States
- Volunteers
- 2 people
- Sponsor
- Genzyme, a Sanofi Company
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
Glycogen Storage Disease Type III
Safety, Tolerability, and Pharmacokinetics of UX053 in Patients With Glycogen Storage Disease Type III (GSD III)
The primary objective of the study is to evaluate the safety of UX053 in adults with Glycogen Storage Disease Type III (GSD III).
- Trial name
- NCT04990388
- Testing
- UX053, Antipyretic, H2 Blocker
- Where
- 6 sites in United States, Italy and 1 more
- Volunteers
- 9 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD II)
Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa
This is an open-label, multicenter study of participants with late-onset Pompe disease naive to treatment with enzyme replacement therapy (ERT).
- Conditions
- Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD II), Glycogenesis 2 Acid Maltase Deficiency
- Trial name
- NCT01288027
- Testing
- Alglucosidase Alfa
- Where
- 15 sites in United States, Germany and 2 more
- Volunteers
- 16 people
- Sponsor
- Genzyme, a Sanofi Company
Glycogen Storage Disease, Type 14
Study of ORL-1G (D-galactose) in Patients With Glycogen Storage Disease Type 14
Study of ORL-1G in Patients With Glycogen Storage Disease Type 14
- Trial name
- NCT03404856
- Testing
- ORL-1G - D-galactose
- Where
- Turkey (Türkiye)
- Volunteers
- 5 people
- Sponsor
- Orpha Labs
Carbohydrate Metabolism, Hepatic Glycogen Storage
Effects of Dual-Source Carbohydrate Intake and Liver Glycogen Repletion After Overnight Fasting.
This study is looking at whether eating a breakfast which has two different sources of carbohydrates, glucose and fructose (found in foods like honey and fruits), can increase how much glycogen can be stored in the liver.
- Conditions
- Carbohydrate Metabolism, Hepatic Glycogen Storage, Healthy Adult Male
- Trial name
- NCT07476989
- Testing
- No breakfast, Breakfast (0% Fructose), Breakfast (50% fructose)
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Manchester Metropolitan University
Pompe Disease
VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Participants With Late-Onset Pompe Disease
This Phase I/II open-label, randomized, dose-escalation study will assess the safety, tolerability, pharmacokinetics, pharmacodynamics, and preliminary efficacy of VAL-1221 versus Myozyme®/Lumizyme® in participants with…
- Trial name
- NCT02898753
- Testing
- VAL-1221, RhGAA
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 12 people
- Sponsor
- Valerion Therapeutics, LLC
Danon Disease
A Gene Therapy Study of RP-A501 in Male Patients With Danon Disease
This is a single arm Phase 2 trial to evaluate the efficacy and safety of RP-A501, a recombinant adeno-associated virus serotype 9 (rAAV9) vector containing the human lysosome-associated membrane protein 2 isoform B (LAMP2B)…
- Trial name
- NCT06092034
- Testing
- RP-A501
- Where
- 6 sites in United States, Germany and 2 more
- Volunteers
- 18 people
- Sponsor
- Rocket Pharmaceuticals Inc.