Clinical trials: Glycogen Storage Disease Type II
Pompe Disease Late-Onset, Glycogen Storage Disease Type II GSD II
Extension Study of Long-term Safety and Efficacy of Myozyme for a Single Patient With Pompe Disease Who Were Previously Enrolled in Genzyme Sponsored ERT Studies.
This extension study was to monitor the long-term safety and efficacy of rhGAA treatment in a single patient with infantile-onset Pompe disease who were previously treated with rhGAA in a Genzyme study.
- Trial name
- NCT00765414
- Testing
- Myozyme
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Genzyme, a Sanofi Company
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
Pompe Disease
Alglucosidase Alfa Pompe Safety Sub-Registry
To collect uniform and meaningful data on patients with Pompe disease who experience anaphylaxis, severe allergic reactions, and/or signals of severe cutaneous and/or systemic immune complex-mediated reactions following treatment…
- Trial name
- NCT01710813
- Testing
- alglucosidase alfa
- Where
- 18 sites in United States, Belgium and 4 more
- Volunteers
- 110 people
- Sponsor
- Genzyme, a Sanofi Company
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
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
Glycogen Storage Disease Type II, Glycogenosis 2
Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Infantile-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).
- Trial name
- NCT00074919
- Testing
- alglucosidase alfa
- Sponsor
- Genzyme, a Sanofi Company
Cardiac Diseases, Muscular Weakness
Biomarker for Pompe Disease (BioPompe)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Pompe disease from blood (plasma)
- Conditions
- Cardiac Diseases, Muscular Weakness, Hepato-splenomegaly, Lung Disease
- Trial name
- BioPompe (NCT01457443)
- Where
- 4 sites in Germany, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Pompe Disease
Screening Protocol to Evaluate Acid Alpha-Glucosidase (GAA) Activity and GAA Gene Mutations 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).
- Trial name
- NCT00113035
- Where
- 5 sites in United States
- Volunteers
- 60 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease
Clinical Specimen Collection From Pompe Disease Patients
Clinical specimens are required from individuals with Pompe Disease to support process and analytical development for a genetically modified autologous bone marrow cell product currently in preclinical research, FTX-PD01.
- Trial name
- NCT04476550
- Testing
- Filgrastim
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Serhat Gumrukcu, MD PhD
Pompe Disease Infantile-Onset
Evaluation of the Safety and Efficacy of Infantile-onset Pompe Disease Gene Therapy Drug
This study is being conducted to evaluate the safety and effectiveness of GC301 adeno-associated virus vector expressing codon-optimized human acid alpha-glucosidase (GAA) as potential gene therapy for Pompe disease.
- Trial name
- NCT05793307
- Testing
- GC301
- Where
- 5 sites in China
- Volunteers
- 16 people
- Sponsor
- GeneCradle Inc
Glycogen Storage Disease Type II, Pompe Disease
Pompe Disease Registry Protocol
The Pompe Registry is a global, multicenter, international, longitudinal, observational, and voluntary program for patients with Pompe disease, designed to track the disease's natural history and outcomes in patients, both…
- Trial name
- NCT00231400
- Where
- 282 sites in United States, Argentina and 42 more
- Volunteers
- 2,000 people
- Sponsor
- Genzyme, a Sanofi Company
Wet Age-related Macular Degeneration
Comparing Efficacy of 8-Week and 12-Week Faricimab Initial Follow-Up Treatment Intervals
This is a prospective, randomized study that compares 8-week and 12-week follow-up intervals after the 4 monthly injections in the loading phase.
- Trial name
- NCT06875245
- Testing
- Faricimab Injection
- Where
- Czechia
- Volunteers
- 100 people
- Sponsor
- Faculty Hospital Kralovske Vinohrady
Pompe Disease
A Long Term Follow up Study in Late-onset Pompe Disease
This study is to observe the progression of disease in late-onset Pompe disease
- Trial name
- NCT00713245
- Where
- Taiwan
- Volunteers
- 70 people
- Sponsor
- National Taiwan University Hospital
Pompe Disease
Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease
Pompe disease is an inherited condition of acid alpha-glucosidase (GAA) deficiency resulting in lysosomal accumulation of glycogen in all tissues. Glycogen accumulation leads to muscle dysfunction and profound muscle weakness.
- Trial name
- NCT00976352
- Testing
- rAAV1-CMV-GAA (study agent) Administration, RMST
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- University of Florida
Glycogen Storage Disease Type II
Higher Dose of Alglucosidase Alpha for Pompe Disease
This study is aimed to investigate that whether the higher dose ERT improve safety and clinical outcomes of Pompe disease patients.
- Trial name
- NCT05017402
- Testing
- Alglucosidase Alfa
- Volunteers
- 36 people
- Sponsor
- Taipei Veterans General Hospital, Taiwan
Pompe Disease, Glycogen Storage Disease Type II (GSD-II)
High Dose or High Dose Frequency Study of Alglucosidase Alfa
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, Glycogen Storage Disease Type II (GSD-II), Glycogenesis 2 Acid Maltase Deficiency
- Trial name
- NCT00483379
- Testing
- alglucosidase alfa
- Where
- 11 sites in United States, Australia and 1 more
- Volunteers
- 13 people
- Sponsor
- Genzyme, a Sanofi Company
Glycogen Storage Disease
Lingual Muscle Training in Late-Onset Pompe Disease (LOPD)
This study is being done to test the effects of Lingual Muscle Therapy (LMT) in patients with Late-Onset Pompe Disease (LOPD) who have tongue weakness.
- Trial name
- NCT03255213
- Testing
- Lingual Muscle Training
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Duke University
Pompe Disease
Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices
The incidence of type II glycogen-storage disease (Pompe disease) varies depending on ethnicity and geographic region. As of 2010, nine studies have been published documenting the incidence of Pompe disease.
- Trial name
- IPANEMA (NCT02838368)
- Where
- United States
- Volunteers
- 921 people
- Sponsor
- University of California, Irvine
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, 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