Clinical trials: Glycogenosis 2
Pompe Disease
A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI
This project is an observational prospective study in which patients affected by an adult onset Pompe disease will be followed-up during three years using different clinical, analytical and radiological tests in order to know…
- Trial name
- POMPE 2013 (NCT01914536)
- Where
- Spain
- Volunteers
- 30 people
- Sponsor
- Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
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, 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
Mucopolysaccharidosis I, Mucopolysaccharidosis II
Registry of Patients Diagnosed With Lysosomal Storage Diseases
This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of…
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI
- Trial name
- LSD Registry (NCT05619900)
- Testing
- There is no intervention
- Where
- United States
- Volunteers
- 250 people
- Sponsor
- University of California, San Francisco
Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD-II)
Late-Onset Treatment Study Extension Protocol
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), Glycogenesis Type II, Acid Maltase Deficiency (AMD)
- Trial name
- NCT00455195
- Testing
- alglucosidase alfa
- Where
- 31 sites in United States, Australia and 3 more
- Volunteers
- 81 people
- Sponsor
- Genzyme, a Sanofi Company
Myopathy, Neuropathy
Identification of Tongue Involvement in Late-Onset Pompe Disease
This purpose of this study is to determine if tongue strength and tongue ultrasound measurements differentiates patients with untreated late-onset Pompe Disease (LOPD) from patients with acquires/hereditary myopathies or…
- Conditions
- Myopathy, Neuropathy, Glycogen Storage Disease Type II (Late-onset Pompe Disease)
- Trial name
- NCT02765828
- Testing
- Observational study
- Where
- United States
- Volunteers
- 73 people
- Sponsor
- Duke University
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
Danon Disease
Danon Disease Natural History Study
The goal of this international observational study is to learn about the natural history of Danon disease in male patients (≥8 years of age) and female patients (8 to 50 years of age).
- Trial name
- NCT06214507
- Testing
- No intervention
- Where
- 16 sites in United States, Australia and 5 more
- Volunteers
- 60 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Glycogen Storage Disease Type II
A Prospective, Observational Study in Patients With Late-Onset Pompe Disease
Pompe disease (also known as glycogen storage disease type II, "GSD-II") is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Trial name
- NCT00077662
- Where
- 5 sites in United States, France and 1 more
- Volunteers
- 61 people
- Sponsor
- Genzyme, a Sanofi Company
Glycogen Storage Disease Type II
High Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe Disease
The research protocol will be submitted for approval to the institutional review board of Columbia University Medical Center. An attempt will be made to recruit at least 6 juvenile patients between the ages of 8 and 17…
- Trial name
- NCT01656590
- Testing
- High Protein and Exercise Therapy along-with Nocturnal Enteral Feeding
- Where
- United States
- Sponsor
- Columbia University
Pompe Disease, Glycogen Storage Disease Type II
An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cross-Reacting Immunologic Material (CRIM[-]) Patients With Infantile-Onset Pompe Disease
The purpose of this study was to evaluate the efficacy, clinical benefits and safety of a prophylactic immunomodulatory regimen given prior to first treatment with alglucosidase alfa (Myozyme®) in patients with infantile-onset…
- Trial name
- NCT00701129
- Testing
- Alglucosidase Alfa, Methotrexate, Rituximab
- Where
- 2 sites in United States
- Volunteers
- 4 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease
A Long-term Study for the Outcome of Pompe Disease
Prospectively follow patients with Pompe disease underwent enzyme replacement therapy.
- Trial name
- NCT02399748
- Where
- Taiwan
- Volunteers
- 50 people
- Sponsor
- National Taiwan University Hospital
Pompe Disease (Late-onset)
ZIP Study-OL Study of Safety, PK, Efficacy, PD, Immunogenicity of ATB200/AT2221 in Pediatrics Aged 0 to < 18 y.o. w/LOPD
This is a Phase 3, open-label, multicenter study to evaluate the safety, PK, efficacy, PD, and immunogenicity of Cipaglucosidase Alfa/Miglustat treatment in enzyme replacement therapy (ERT)-experienced and ERT-naïve pediatric…
- Trial name
- NCT03911505
- Testing
- Cipaglucosidase Alfa, Miglustat
- Where
- 17 sites in United States, Australia and 4 more
- Volunteers
- 21 people
- Sponsor
- Amicus Therapeutics
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
Lysosomal Storage Disorders
Molecular and Cellular Mechanisms of Lysosomal Storage Diseases
The lysosome is a specialized part of the cell that functions to degrade metabolic wastes in the cell. Defects in the functioning of the lysosome result in accumulation and subsequent storage of such metabolic wastes.
- Trial name
- NCT02000310
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- O & O Alpan LLC
Glycogen Storage Disease Type II Pompe Disease
Avalglucosidase Alfa Extension Study
Primary Objective: Long-term safety and pharmacokinetics (PK) of avalglucosidase alfa Secondary Objective: Long-term effect of avalglucosidase alfa on pharmacodynamic variables
- Trial name
- NEO-EXT (NCT02032524)
- Testing
- Avalglucosidase Alfa
- Where
- 17 sites in United States, Belgium and 5 more
- Volunteers
- 19 people
- Sponsor
- Genzyme, a Sanofi Company
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
Pompe Disease
Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months (STIG-Pompe-Study)
Long-term outcome in late-onset Pompe disease treated beyond 36 months (ATBIG-Pompe-Study), a multicenter, multinational, longitudinal, non-interventional observational study in subjects, at least 8 years old, diagnosed with…
- Trial name
- STIG (NCT02824068)
- Testing
- glucosidase alfa
- Where
- 3 sites in Germany, Italy and 1 more
- Volunteers
- 112 people
- Sponsor
- LMU Klinikum
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
Neutropenia
A Study of Mavorixafor in Participants With Congenital Neutropenia and Chronic Idiopathic Neutropenia Disorders
This is a 2-part study of mavorixafor in participants diagnosed with chronic neutropenia. The main goal of Part 1 (Phase 1b) is to help researchers learn more about how the investigational medicine, mavorixafor, impacts people…
- Trial name
- NCT04154488
- Testing
- Mavorixafor
- Where
- 7 sites in United States
- Volunteers
- 32 people
- Sponsor
- X4 Pharmaceuticals