Clinical trials: Acid Maltase Deficiency
Glycogen Storage Disease Type II (GSD-II), Pompe Disease (Late-onset)
Pompe Pregnancy Sub-Registry
This Sub-registry is a multicenter, international, longitudinal, observational, and voluntary program designed to track pregnancy outcomes for any pregnant woman enrolled in the Pompe Registry, regardless of whether she is…
- Conditions
- Glycogen Storage Disease Type II (GSD-II), Pompe Disease (Late-onset), Glycogenesis 2 Acid Maltase Deficiency
- Trial name
- NCT00567073
- Where
- 35 sites in United States, Australia and 7 more
- Volunteers
- 20 people
- Sponsor
- Genzyme, a Sanofi Company
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.
Pompe Disease (Late-onset), GAA Deficiency
Treatment Frequency Reduction in Pompe Disease
The aim of this study is to assess if dosing frequency reduction of alglucosidase alfa 20 mg/kg once every 2 weeks to once every 4 weeks is safe and does not lead to increased progression of disease in a selected group of…
- Conditions
- Pompe Disease (Late-onset), GAA Deficiency, Glycogen Storage Disease Type II, Acid Maltase Deficiency
- Trial name
- TRIPOD (NCT06575829)
- Testing
- Algucosidase alfa 20 mg/kg once every 4 weeks instead of once every 2 weeks
- Volunteers
- 10 people
- Sponsor
- Erasmus Medical Center
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, Glycogen Storage Disease Type II (GSD II)
Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients.
Primary Objective: To evaluate the safety and tolerability of neoGAA in treatment naïve and alglucosidase alfa treated late-onset Pompe disease patients.
- Conditions
- Pompe Disease, Glycogen Storage Disease Type II (GSD II), Acid Maltase Deficiency
- Trial name
- NCT01898364
- Testing
- GZ402666
- Where
- 17 sites in United States, Belgium and 5 more
- Volunteers
- 24 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease, Glycogen Storage Disease Type II (GSD-II)
Growth and Development Study of Alglucosidase Alfa
Pompe disease (also known as glycogen storage disease Type II) is a rare autosomal recessive metabolic muscle disease caused by the deficiency of acid α glucosidase (GAA), an enzyme that degrades lysosomal glycogen.
- Conditions
- Pompe Disease, Glycogen Storage Disease Type II (GSD-II), Acid Maltase Deficiency Disease
- Trial name
- NCT00486889
- Testing
- alglucosidase alfa
- Where
- 3 sites in United States
- Volunteers
- 12 people
- Sponsor
- Genzyme, a Sanofi Company
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 (Infantile-Onset), Glycogen Storage Disease Type II (GSD II)
A Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Treatment Naïve Patients With Infantile-Onset Pompe Disease
A study to demonstrate comparable safety, efficacy, and pharmacokinetics (PK) of alglucosidase alfa manufactured at the 160 litre (L) and 4000 L scales in participants who had been diagnosed with infantile-onset Pompe disease.
- Conditions
- Pompe Disease (Infantile-Onset), Glycogen Storage Disease Type II (GSD II), Glycogenosis 2, Acid Maltase Deficiency
- Trial name
- NCT01597596
- Testing
- alglucosidase alfa
- Where
- 17 sites in United States, Germany and 1 more
- Volunteers
- 4 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease (Late-onset), Glycogen Storage Disease Type II (GSD-II)
A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) 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).
- Conditions
- Pompe Disease (Late-onset), Glycogen Storage Disease Type II (GSD-II), Acid Maltase Deficiency Disease, Glycogenosis 2
- Trial name
- NCT00158600
- Testing
- alglucosidase alfa
- Where
- 8 sites in United States, France and 1 more
- Volunteers
- 90 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD II)
Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa
This is an open-label, multicenter study of participants with late-onset Pompe disease naive to treatment with enzyme replacement therapy (ERT).
- Conditions
- Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD II), Glycogenesis 2 Acid Maltase Deficiency
- Trial name
- NCT01288027
- Testing
- Alglucosidase Alfa
- Where
- 15 sites in United States, Germany and 2 more
- Volunteers
- 16 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease, Glycogen Storage Disease Type II
Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe Disease
Pompe disease is caused by a deficiency of a critical enzyme in the body called acid alpha glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures…
- Conditions
- Pompe Disease, Glycogen Storage Disease Type II, Acid Maltase Deficiency Disease, Glycogenosis 2
- Trial name
- NCT00025896
- Testing
- recombinant human acid alpha-glucosidase (rhGAA)
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Genzyme, a Sanofi Company
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
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
Pompe Disease (Late-onset), Glycogen Storage Disease Type II (GSD-II)
A Study of rhGAA 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).
- Conditions
- Pompe Disease (Late-onset), Glycogen Storage Disease Type II (GSD-II), Acid Maltase Deficiency Disease, Glycogenosis 2
- Trial name
- NCT00250939
- Testing
- Myozyme
- Where
- Netherlands
- Volunteers
- 5 people
- Sponsor
- Genzyme, a Sanofi Company
Glycogen Storage Disease Type II (GSD-II), Pompe Disease (Late-Onset)
Alglucosidase Alfa Temporary Access Program
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
- Glycogen Storage Disease Type II (GSD-II), Pompe Disease (Late-Onset), Acid Maltase Deficiency Disease, Glycogenosis 2
- Trial name
- ATAP (NCT00520143)
- Testing
- alglucosidase alfa (recombinant human acid alpha-glucosidase [rhGAA])
- Where
- 74 sites in United States
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD II)
Study About the Evolution of Severe Late Onset Pompe Disease Patient With Pulmonary Dysfunction and Receiving Myozyme®
To describe severe late onset patients with pompe disease receiving Myozyme®
- Conditions
- Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD II), Glycogenesis 2 Acid Maltase Deficiency
- Trial name
- NCT00731081
- Where
- France
- Volunteers
- 8 people
- Sponsor
- Genzyme, a Sanofi Company
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 Disease
rhGAA in Patients With Infantile-onset Glycogen Storage Disease-II (Pompe Disease)
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
- NCT00053573
- Testing
- Myozyme
- Where
- 6 sites in United States, France and 2 more
- Volunteers
- 20 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease (Late-onset), Glycogen Storage Disease Type II (GSD-II)
Safety and Effectiveness Study of rhGAA in Patients With Advanced Late-Onset Pompe Disease Receiving Respiratory Support
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), Acid Maltase Deficiency Disease, Glycogenosis 2
- Trial name
- NCT00268944
- Testing
- Myozyme
- Where
- France
- Volunteers
- 5 people
- Sponsor
- Genzyme, a Sanofi Company