Clinical trials: Glycogen Metabolism
Obesity
Maximal Fat Oxidation and Fuel Use During Exercise
Fat and carbohydrate are the two main energy stores available as fuel during exercise. It is well known that the exercise intensity and feeding status are the major factors determining the type of fuel used during exercise.
- Trial name
- NCT04678713
- Testing
- investigate the nutritional determinants of MFO in moderate to well-train individuals, Investigate the physiological determinants of MFO in moderate to well-train individuals
- Where
- Denmark
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Copenhagen
Pompe Disease, Pompe Disease (Late-onset)
Developing a Management Approach for Patients With "Late-Onset" Pompe Disease
This is an observational study with no study related treatment of interventions. The purpose of the study is to investigate and document disease specific clinical symptoms in newborns, infants and children with Pompe disease…
- Conditions
- Pompe Disease, Pompe Disease (Late-onset), GAA Deficiency
- Trial name
- NCT03694561
- Testing
- Observational
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Duke University
Pompe Disease
The Effects of Respiratory Muscle Strength Training (RMST) on Inspiratory and Expiratory Muscle Strength in Adults and Children With Pompe Disease
The purpose of the study is to determine if respiratory muscle strength training will be beneficial for inspiratory and expiratory muscle strength in adults and children with Pompe disease.
- Trial name
- NCT01701154
- Testing
- respiratory muscle strength training
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- Duke University
Pompe Disease Infantile-Onset, Glycogen Storage Disease Type II
Extension Study of Long-term Safety and Efficacy of Myozyme in Patients With Pompe Disease Who Were Previously Enrolled in Genzyme Sponsored Enzyme Replacement Therapy (ERT) Studies
This extension study was to monitor the long-term safety and efficacy of rhGAA treatment in patients with infantile-onset Pompe disease who were previously treated with rhGAA derived from the Synpac cell line
- Trial name
- NCT00763932
- Testing
- Myozyme
- Where
- 8 sites in United States, France and 1 more
- Volunteers
- 7 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease (Late-onset), Glycogen Storage Disease Type II (GSD-II)
A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease
Pompe disease (also known as glycogen storage disease Type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Conditions
- Pompe Disease (Late-onset), Glycogen Storage Disease Type II (GSD-II), Acid Maltase Deficiency Disease, Glycogenosis 2
- Trial name
- NCT00158600
- Testing
- alglucosidase alfa
- Where
- 8 sites in United States, France and 1 more
- Volunteers
- 90 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease
Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease
A Phase 1/2, open-label, multicenter, multiple dose escalation study of BMN 701 administered by intravenous infusion every 2 weeks over a 24-week treatment period to patients with late-onset Pompe disease.
- Trial name
- NCT01230801
- Testing
- BMN 701
- Where
- 10 sites in United States, Australia and 3 more
- Volunteers
- 22 people
- Sponsor
- BioMarin Pharmaceutical
Glycogen Storage Disease Type I
Anaplerotic Therapy Using Triheptanoin for Patients With Glycogen Storage Disease Type I
This study will be an open-label, prospective, interventional feasibility pilot project to study the efficacy, safety, and tolerability of UX007 (triheptanoin) on reducing hypoglycemic events in patients with GSD I.
- Trial name
- NCT03665636
- Testing
- Triheptanoin
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Areeg El-Gharbawy
Glycogen Depletion, Insulin Sensitivity
How is Glycogen Supercompensation Regulated in Human Skeletal Muscle
Nine healthy, moderately fit male volunteers participated in the study. The subjects gave written informed consent after having been informed of any possible risk and discomfort associated with the study.
- Trial name
- Supercomp (NCT03458741)
- Testing
- Glycogen Supercompensation
- Where
- Denmark
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- University of Copenhagen
Intermediate AMD
A Clinical Trial Evaluating the Safety and Efficacy of a New Light Combination Therapy Addressing Intermediate AMD
The proposed clinical investigation wants primary to validate the safety of the innovative light therapy approach and in second priority provide insight and confirmations on therapeutic effect.
- Trial name
- retinaSEES-PoC (NCT06557369)
- Testing
- reSEES
- Where
- Italy
- Volunteers
- 30 people
- Sponsor
- Oculox Technologies SA
Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency, Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2)
Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism
This is a compassionate use study to allow patients already taking triheptanoin (C7) through previous studies to continue to receive the supplement.
- Conditions
- Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency, Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2), Mitochondrial Trifunctional Protein Deficiency, Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency
- Trial name
- NCT01461304
- Testing
- triheptanoin
- Where
- United States
- Sponsor
- Jerry Vockley, MD, PhD
Pompe Disease
Phrenic Nerve and Diaphragm Electrophysiology in Pompe Disease
Pompe disease is traditionally considered a lysosomal myopathy. However, increasing experimental and clinical evidence suggests involvement of the entire motor unit, including motor neurons, peripheral nerves, neuromuscular…
- Trial name
- NCT07664930
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- IRCCS National Neurological Institute "C. Mondino" Foundation
Danon Disease
Gene Therapy for Male Patients With Danon Disease (DD) Using RP-A501; AAV9.LAMP2B
This is a non-randomized open-label Phase 1 study to evaluate the safety and toxicity of gene therapy using a recombinant adeno-associated virus serotype 9 (AAV9) containing the human lysosome-associated membrane protein 2…
- Trial name
- NCT03882437
- Testing
- RP-A501
- Where
- 3 sites in United States
- Volunteers
- 7 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Pompe Disease
Extension Study for Patients Who Have Participated in a BMN 701 Study
This is a Phase 2 open-label, multiple dose study of BMN 701 administered by IV infusion every 2 weeks (qow) to patients with late-onset Pompe disease.
- Trial name
- NCT01435772
- Testing
- BMN 701
- Where
- 12 sites in United States, Australia and 4 more
- Volunteers
- 21 people
- Sponsor
- BioMarin Pharmaceutical
Pompe Disease
A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe Disease
The objective of this study was to evaluate the efficacy and safety of treatment with 4000 litre (L) alglucosidase alfa (Lumizyme®) in Pompe participants.
- Trial name
- NCT01526785
- Testing
- Alglucosidase alfa
- Where
- 51 sites in United States
- Volunteers
- 113 people
- Sponsor
- Genzyme, a Sanofi Company
Type 2 Diabetes, Overweight and Obesity
Acute Timed Exercise and 24h Metabolism
The primary objective of this randomized controlled cross-over study is to investigate if an acute, glycogen lowering exercise bout performed either in the morning or late afternoon differentially affects the respiratory exchange…
- Trial name
- TIM (NCT05073068)
- Testing
- Timing of exercise, Control
- Where
- Netherlands
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Maastricht University
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
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
Alpha-Thalassemia, Beta-Thalassemia
FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases
FLOWER is a completely virtual, nationwide, real-world observational study to collect, annotate, standardize, and report clinical data for rare diseases.
- Conditions
- Alpha-Thalassemia, Beta-Thalassemia, Amyloidosis, Amyotrophic Lateral Sclerosis
- Trial name
- NCT06539169
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- xCures
Antiphospholipid (aPL)-Positive, Rheumatic Arthritis
MENA/Levant Epidemiological, Registry of Immunological & Clinical Traits (MERIT)
The primary objective of this multicenter observational registry is to characterize the clinical, epidemiological, and biological profiles of individuals of Middle Eastern, North African, and Levantine ancestry, including…
- Conditions
- Antiphospholipid (aPL)-Positive, Rheumatic Arthritis, Celiac Disease, Focal Segmental Glomerulosclerosis (FSGS)
- Trial name
- MERIT (NCT07892651)
- Where
- Jordan
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Axiom Bioregistry
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