Clinical trials: Enzyme Replacement Therapy in Pompe Disease
Enzyme Replacement Therapy in Pompe Disease
Cardiopulmonary Exercise Test to Quantify Enzyme Replacement Response in Pediatric Pompe Disease
Introduction: Enzyme replacement therapy (ERT) with Myozyme improved the prospect of Pompe disease patients. Our aim was to evaluate ERT acute effect on exercise capacity in pediatric Pompe patients.
- Trial name
- NCT03147664
- Volunteers
- 5 people
- Sponsor
- Rambam Health Care Campus
Pompe Disease Infantile-Onset
Exercise Capacity in Response to Enzyme Replacement Therapy in Pediatric Pompe Disease.
Our aims are to investigate the acute and long term effect of ERT on exercise capacity; comparing the effect of different ERT dosages (as prescribed by the clinician according to clinical judgment) and assessing the relationship…
- Trial name
- NCT04755751
- Testing
- Cardiopulmonary exercise testing (CPET)
- Where
- Israel
- Volunteers
- 4 people
- Sponsor
- Rambam Health Care Campus
Pompe Disease
Observational Study for Subjects With Pompe Disease Undergoing Immune Modulation Therapies
Hypothesis: the effectiveness of treatment of Pompe Disease with rhGAA enzyme replacement therapy (ERT) is limited at least in part because patients develop antibodies against the provided rhGAA enzyme.
- Trial name
- NCT01451879
- Testing
- Rituximab, Miglustat
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- University of Florida
Pompe's Disease Juvenile Onset
Effect of Enzyme Replacement Therapy in Patients With Juvenile-onset Pompe Disease
Pompe disease is known as glycogen storage disease type II, an autosomal recessive disease that results from acid alpha-glucosidase (GAA) deficiency leading to lysosomal glycogen accumulation.
- Trial name
- NCT04942912
- Where
- France
- Volunteers
- 10 people
- Sponsor
- Central Hospital, Nancy, France
Glycogen Storage Disease Type II, Pompe Disease
A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II
GSD-II (also known as Pompe disease) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Conditions
- Glycogen Storage Disease Type II, Pompe Disease, Acid Maltase Deficiency Disease, Glycogenosis 2
- Trial name
- NCT00051935
- Testing
- Alglucosidase alfa
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Genzyme, a Sanofi Company
Glycogen Storage Disease Type II;Pompe's Disease
Study to Compare the Efficacy and Safety of Enzyme Replacement Therapies Avalglucosidase Alfa and Alglucosidase Alfa Administered Every Other Week in Patients With Late-onset Pompe Disease Who Have Not Been Previously Treated for Pompe Disease
Primary Objective: To determine the effect of avalglucosidase alfa treatment on respiratory muscle strength measured by percent (%) predicted forced vital capacity (FVC) in the upright position, as compared to alglucosidase alfa.
- Trial name
- COMET (NCT02782741)
- Testing
- Avalglucosidase alfa (GZ402666), Alglucosidase alfa (GZ419829)
- Where
- 69 sites in United States, Argentina and 23 more
- Volunteers
- 101 people
- Sponsor
- Genzyme, a Sanofi Company
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
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
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