Clinical trials: Glycogen Storage Disease Type II (GSD-II)
Pompe Disease, Glycogen Storage Disease Type II (GSD-II)
Immune Tolerance Induction Study
An exploratory, open-labeled study of participants with Pompe disease, who had previously received Myozyme® (alglucosidase alfa) treatment, to evaluate the efficacy, safety and clinical benefit of 2 Immune Tolerance Induction…
- Conditions
- Pompe Disease, Glycogen Storage Disease Type II (GSD-II), Glycogenesis 2 Acid Maltase Deficiency
- Trial name
- NCT00701701
- Testing
- Myozyme® (alglucosidase alfa)
- Where
- 5 sites in United States, Israel
- Volunteers
- 4 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease, Pompe Disease (Late-onset)
Neutralizing Antibody Seroprevalence Study With a Retrospective Component in Participants With Late-Onset Pompe Disease
The purpose of this study is to obtain information pertaining to the occurrence of antibodies to investigational SPK-3006 capsid and GAA, GAA activity and GAA antigen levels in the usual care setting of Late-Onset Pompe Disease…
- Conditions
- Pompe Disease, Pompe Disease (Late-onset), Glycogen Storage Disease Type 2, LOPD
- Trial name
- NCT03893240
- Testing
- Neutralizing Antibody to SPK-3006 capsid
- Where
- 18 sites in United States, France and 4 more
- Volunteers
- 61 people
- Sponsor
- Spark Therapeutics, Inc.
Pompe Disease
Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease
A recombinant AAV vector has been generated to carry the codon-optimized acid alpha-glucosidase (coGAA) gene expressed from a human desmin enhancer/promoter (DES).
- Trial name
- AAV9-GAA_IM (NCT02240407)
- Testing
- Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase, Rapamycin, saline
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- University of Florida
Glycogen Storage Disease Type II
Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase Alfa
This is a single group, treatment, Phase 3, open-label study to assess efficacy, safety, pharmacokinetic (PK), pharmacodynamics (PD) of avalglucosidase alfa in treatment-naïve male and female participants with IOPD.
- Trial name
- Baby-COMET (NCT04910776)
- Testing
- avalglucosidase alfa
- Where
- 16 sites in United States, Belgium and 7 more
- Volunteers
- 17 people
- Sponsor
- Sanofi
Pompe Disease, Pompe Disease (Late-onset)
A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE)
The purpose of this study is to evaluate the safety, tolerability, and efficacy of a single intravenous infusion of SPK-3006 in adults with clinically moderate, late-onset Pompe disease receiving enzyme replacement therapy (ERT).
- Conditions
- Pompe Disease, Pompe Disease (Late-onset), Glycogen Storage Disease Type 2, Glycogen Storage Disease Type II
- Trial name
- NCT04093349
- Testing
- SPK-3006
- Where
- 29 sites in United States, Canada and 6 more
- Volunteers
- 4 people
- Sponsor
- Spark Therapeutics, Inc.
Age-Related Macular Degeneration, Macular Degeneration
Repeated Eye Injections of Aflibercept for Treatment of Wet Age Related Macular Degeneration
To evaluate the visual outcome and number of injections required during an optical coherence tomography (OCT)-guided treat and extend regimen with intravitreal aflibercept for treatment of subfoveal neovascular age-related…
- Trial name
- ATLAS (NCT01773954)
- Testing
- Intravitreal Aflibercept Injection
- Where
- 3 sites in United States
- Volunteers
- 40 people
- Sponsor
- MidAtlantic Retina
Pompe Disease
Cognitive and Neurological Pathologies in Pompe Disease
The purpose of this study is to better understand the long-term health effects of Pompe disease and to determine if there are any abnormal changes in the brain and peripheral nerves.
- Trial name
- CNS (NCT04639336)
- Where
- United States
- Volunteers
- 45 people
- Sponsor
- Duke University
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
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