Clinical trials: Glycogen Metabolism
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
Pompe Disease (Late-onset)
A Study Comparing ATB200/AT2221 With Alglucosidase Alfa/Placebo in Adult Subjects With Late-onset Pompe Disease
This is a phase 3 double-blind randomized study to study the efficacy and safety of intravenous ATB200 Co-administered with oral AT2221 in adult subjects with Late Onset Pompe Disease compared with Alglucosidase Alfa/placebo.
- Trial name
- PROPEL (NCT03729362)
- Testing
- Cipaglucosidase Alfa, Miglustat, Alglucosidase Alfa
- Where
- 73 sites in United States, Argentina and 22 more
- Volunteers
- 125 people
- Sponsor
- Amicus Therapeutics
Pompe Disease
High Risk Screen of Childhood Late-onset Pompe Disease in Pediatric Outpatient Clinics
Establish of high-risk screening criteria to earlier identify possible childhood LOPD for early treatment and better prognosis. Therefore, validation of the high-risk screening criteria for childhood LOPD will be critical for…
- Trial name
- NCT04981210
- Where
- Taiwan
- Volunteers
- 1,500 people
- Sponsor
- National Taiwan University Hospital
Lysosomal Storage Diseases
Screening of Lysosomal Storage Disorders Diseases in Minority Groups
Aim is to undertake a screening study that identifies undiagnosed patients with LSDs and determine the prevalence of these diseases with special focus on underrepresented minority groups.
- Trial name
- NCT03812042
- Testing
- Enzyme assay and molecular sequencing
- Where
- United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
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
Glycogen Storage Disease Type IA, Glycogen Storage Disease Type I
Accuracy of Home Lactate Meter and Accu-chek Glucometer in Patients With Glycogen Storage Disease
The goal of this study is to determine if the Lactate Plus meter is accurate compared to lab lactate levels, and to determine if the Accu chek guide glucometer is accurate compared to lab serum glucose levels in patients with…
- Conditions
- Glycogen Storage Disease Type IA, Glycogen Storage Disease Type I, Glycogen Storage Disease Type IB, Glycogen Storage Disease Xi
- Trial name
- NCT07459582
- Testing
- Lactate Meter, Accu Chek
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Connecticut Children's Medical Center
Pompe Disease
Detection of Pompe Disease in Adult Patients With Myopathies of Uncertain Origin or With Asymptomatic Hyper-CK-emia
The adult onset form can occur between the second and sixth decades of life as a form of proximal myopathy, predominantly in the pelvic girdle area.
- Trial name
- NCT01482494
- Where
- Spain
- Volunteers
- 50 people
- Sponsor
- Jordi Perez Lopez
Pompe Disease
A Global Prospective Observational Registry of Patients With Pompe Disease
This is a global, multicenter, prospective, observational registry of patients with Pompe disease, including those with late-onset pompe disease (LOPD) and infantile-onset pompe disease (IOPD).
- Trial name
- NCT06121011
- Testing
- Cipaglucosidase alfa, Miglustat, Alglucosidase alfa or Avalglucosidase alfa
- Where
- 41 sites in United States, Austria and 10 more
- Volunteers
- 500 people
- Sponsor
- Amicus Therapeutics
Glycogen Storage Disease, McArdle Disease
Carbon-13 Magnetic Resonance Spectroscopy in Glycogen Storage Diseases
The project will use carbon-13 magnetic resonance spectroscopy to assess whether high glycogen levels in skeletal muscle of patients with Glycogen Storage Diseases is a prelude for muscle damage.
- Conditions
- Glycogen Storage Disease, McArdle Disease, Pompe Disease (Late-onset)
- Trial name
- NCT04929002
- Testing
- No intervention
- Where
- Denmark
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Pompe Disease, Mucopolysaccharidosis Type I (MPS I)
A Study to Assess the Safety of Myozyme® and of Aldurazyme® in Male and Female Participants of Any Age Group With Pompe Disease or With Mucopolysaccharidosis Type I (MPS I) in a Home-care Setting
Primary objective: To obtain data pertaining to the safety and tolerability of alglucosidase alfa and laronidase treatments administered in a home-care infusion setting.
- Trial name
- HomERT (NCT05073783)
- Where
- Italy
- Volunteers
- 57 people
- Sponsor
- Sanofi
Pompe Disease
Drug-drug Interaction Study
This study evaluates drug-drug interactions between AT2220 (duvoglustat) and recombinant human alpha-glucosidase (rhGAA, also known as alglucosidase alfa) in participants with Pompe Disease.
- Trial name
- NCT01380743
- Testing
- duvoglustat, rhGAA
- Where
- 15 sites in United States, Canada and 2 more
- Volunteers
- 25 people
- Sponsor
- Amicus Therapeutics
Pompe Disease
A Study of S-606001 as Monotherapy in Participants With Late-onset Pompe Disease (LOPD)
The primary purpose of this study is to evaluate the safety and tolerability profile of S-606001 in participants with LOPD.
- Trial name
- NCT07787650
- Testing
- S-606001
- Volunteers
- 15 people
- Sponsor
- Shionogi
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Glycogen Storage Disease Type II Late Onset, Pompe Disease (Late-onset)
Safety and Efficacy of Avalglucosidase Alfa in Patients With Non-classic Pompe Disease Aged ≥ 5 Years
The goal of this clinical trial is to study the efficacy and safety of treatment with avalglucosidase alfa in patients with late onset Pompe disease that previously deteriorated on alglucosidase alfa.
- Conditions
- Glycogen Storage Disease Type II Late Onset, Pompe Disease (Late-onset), Pompe Disease Late-Onset, Pompe's Disease Juvenile Onset
- Trial name
- AVA (NCT07652814)
- Testing
- Avalglucosidase Alfa
- Where
- Netherlands
- Volunteers
- 6 people
- Sponsor
- Iris Plug
Pompe Disease, Glycogen Storage Disease Type II
Diet and Exercise in Pompe Disease
This study examines the effects of individualized diet and exercise plans on muscle strength, quality of life and respiratory function in Pompe disease.
- Conditions
- Pompe Disease, Glycogen Storage Disease Type II, Lysosomal Storage Diseases
- Trial name
- NCT02363153
- Testing
- Diet and Exercise
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- University of Florida
Glycogen Storage Disease Type II
Avalglucosidase Alfa French Post-trial Access for Participants With Pompe Disease (PTA Avalglucosidase)
This long-term open label safety and efficacy study is intended to follow up, and to provide post-trial access to ERT with avalglucosidase alfa to patients with Pompe disease in France who have completed Study EFC14028, LTS13769…
- Trial name
- NCT05164055
- Testing
- Avalglucosidase alfa (GZ402666)
- Where
- 11 sites in France
- Volunteers
- 17 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease
Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease
evaluate if beta 2-adrenergic agonist can have adjuvant effect to patients with infantile-onset Pompe disease under enzyme replacement therapy
- Trial name
- NCT02405598
- Testing
- Salbutamol
- Where
- Taiwan
- Volunteers
- 14 people
- Sponsor
- National Taiwan University Hospital
Pompe Disease, Pompe Disease (Late-onset)
MSOT in Pompe Disease
In patients with Pompe disease (PD) a progressive abnormal lysosomal glycogen storage in muscle tissue leads to impaired muscle function and to degeneration of muscle fibers.
- Conditions
- Pompe Disease, Pompe Disease (Late-onset), Pompe's Disease Juvenile Onset, Pompe Disease Infantile-Onset
- Trial name
- SPOT_PD (NCT05083806)
- Testing
- Multispectral Optoacoustic Tomography
- Where
- Germany
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Erlangen-Nürnberg Medical School
McArdle Disease
Ketogenic Diet Survey in Patients With McArdle Disease (GSDV)
The purpose of this survey is to report experiences with variants of a ketogenic diet in a group of individuals diagnosed with McArdle disease (glycogen storage disease type V).
- Trial name
- NCT04694547
- Testing
- There is no intervention, as this is a survey study
- Where
- Denmark
- Volunteers
- 200 people
- Sponsor
- Nicoline Løkken
Type 2 Diabetes Mellitus, Prediabetes (Insulin Resistance, Impaired Glucose Tolerance)
Lipid and Glycogen Metabolism in Patients With Impaired Glucose Tolerance and Calcium Sensing Receptor Mutations
Background: Type 2 diabetes mellitus is a main risk factor for cardiovascular disease and heart failure, in part due to diabetic cardiomyopathy.
- Conditions
- Type 2 Diabetes Mellitus, Prediabetes (Insulin Resistance, Impaired Glucose Tolerance), Familiar Hypocalcuric Hypercalcemia, Healthy Volunteers
- Trial name
- RISC_7T (NCT02023489)
- Testing
- 1H/ 13C and 31P Magnetic Resonance Spectroscopy, Meal Tolerance Test, Hyperglycemic-hyperinsulinemic clamp
- Where
- Austria
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Medical University of Vienna