Clinical trials: Glycogen Metabolism
Pompe Disease
CPAP for Infantile Pompe Disease
Patients with infantile onset Pompe disease will be trained with continuous positive airway pressure to see if hypernasality can be improved.
- Trial name
- NCT02405624
- Testing
- continuous positive airway pressure
- Where
- Taiwan
- Volunteers
- 3 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Pompe Disease
Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry
The aim of the study is: to develop a comprehensive biochemical assay for detection of Pompe disease (glycogen storage disease type II), to be implemented in the Newborn screening program among the Israeli population.
- Trial name
- LC-MS-MS (NCT01409486)
- Testing
- Drawing blood spots from Newborns
- Where
- Israel
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Rambam Health Care Campus
Pompe-Disease
ERT in Pompe Disease: Elucidation of Molecular Structures Contributing to Enzyme Uptake and Immunoreactivity
In the first part of this study, the aim is to characterize the molecular structure of wildtype GAA and, in particular, of mutated GAA variants with and without HSAT, in order to learn how mutation impairs uptake of GAA into the…
- Trial name
- NCT05448131
- Where
- Germany
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Centre for Analytical Biochemistry and Biomedical Mass Spectrometry
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Glycogen Storage Disease Type III
Energy Supplements to Improve Exercise Tolerance in Metabolic Myopathies
Patients suffering from the metabolic myopathy Glycogen Storage Disease type IIIa (GSDIIIa) have a problem releasing sugar stored in cells that is needed for energy production.
- Trial name
- NCT02448667
- Testing
- FAXE Kondi, Faxe Kondi Free
- Where
- Denmark
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
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
Exercise
Galactose Mediated Glycogen Resynthesis
This study will compare short-term post-exercise muscle glycogen synthesis following combined galactose-glucose, glucose alone or galactose alone ingestion.
- Trial name
- NCT03903861
- Testing
- Glucose alone, Galactose alone, Glucose and galactose
- Where
- United Kingdom
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- University of Birmingham
Pompe Disease
Muscle Response to Enzyme Replacement Therapy in Pompe Disease
This study is to study the response of muscle cells from Pompe disease after enzyme replacement therapy
- Trial name
- NCT00713453
- Where
- Taiwan
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Healthy
Glycogen Metabolism in Children
It is not fully understood in children how much of hepatic and muscle glycogen is used during a night and how they are replenished after a breakfast.
- Trial name
- NCT04278209
- Testing
- Breakfast 1, Breakfast 2, Water
- Where
- United Kingdom
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Société des Produits Nestlé (SPN)
Pompe Disease
Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease
This study intends to evaluate dynamic respiratory motor performance as a valuable measure of pulmonary function in adults with late-onset Pompe disease.
- Trial name
- DRMF (NCT02354664)
- Testing
- Thoracic MRI, Spirometry, Inspiratory Load Compensation
- Where
- United States
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- University of Florida
Physical Performance, Glucose
Timing of Broccoli Sprout Intake to Improve Exercise Performance
This study examines how the timing of intake of a broccoli sprout-based drink (a natural source of isothiocyanates, ITCs) affects physiological responses, recovery, and performance after a standardized endurance cycling session.
- Conditions
- Physical Performance, Glucose, Glycogen Metabolism, Lactate
- Trial name
- NCT07461194
- Testing
- Broccoli sprout drink (isothiocyanate-rich
- Where
- Sweden
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- The Swedish School of Sport and Health Sciences
Danon Disease, Fabry Disease
Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques
What is this study about? This research is focused on improving the care for people with rare heart muscle diseases, known as rare cardiomyopathies.
- Conditions
- Danon Disease, Fabry Disease, Cardiac Amyloidosis, Noonan Syndrome
- Trial name
- NCT07336394
- Where
- China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Chinese Academy of Medical Sciences, Fuwai Hospital
Healthy
Investigating the Effects of a High GI Versus a Low GI Diet on Hepatic Metabolism and Satiety Levels in Healthy Subjects
The aim of this study is to investigate the effect of a one week high versus low glycaemic index dietary intervention on hepatic glycogen and lipid levels and blood hormone levels in a two way cross overs study and to see if…
- Trial name
- NCT02482558
- Testing
- High/Low Glycaemic index test breakfast
- Where
- United Kingdom
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Unilever R&D
Lysosomal Storage Disorders, Gaucher Disease
Investigating Lysosomal Storage Diseases in Minority Groups
Although lysosomal storage disorders, such as Fabry disease, Gaucher disease, and Pompe disease, represent serious challenges in the healthcare system, no study has yet investigated the prevalence of these diseases in the US.
- Conditions
- Lysosomal Storage Disorders, Gaucher Disease, Fabry Disease, Pompe Disease
- Trial name
- NCT02120235
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- O & O Alpan LLC
Late Onset Pompe Disease, Pompe Disease
Search for Serum/Plasma Biomarkers in Pompe's Disease
This study aims to analyze serum and plasma samples from patients with late onset Pompe disease treated and not treated with enzyme replacement therapy (ERT) to identify microRNA that could be specific of the disease.
- Trial name
- BIOPOMPE (NCT03045042)
- Testing
- Enzyme Replacement Agent
- Where
- Spain
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Muscular Dystrophies, Congenital Myopathy
Assessment of Safety and Acute Effects of a Lower-limb Powered Dermoskeleton in Patients With Neuromuscular Disorders
The aims of the current study are as follow: i) Evaluate the safety, usability, and acute efficiency of a programmable ambulation exoskeleton (KeeogoTM Dermoskeleton System, B-Temia Inc., Quebec, Canada) in patients with…
- Conditions
- Muscular Dystrophies, Congenital Myopathy, Idiopathic Inflammatory Myopathies, Mitochondrial Myopathies
- Trial name
- Exo-KGO1 (NCT05199246)
- Testing
- Lower-limb powered dermoskeleton
- Where
- France
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Institut de Myologie, France
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
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
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
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