Clinical trials: Acid Maltase Deficiency
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
Pompe Disease Infantile-Onset
Expanded Access for ATB200/AT2221 for the Treatment of IOPD
This is an expanded access program (EAP) for eligible participants designed to provide access to ATB200/AT2221.
- Trial name
- NCT04327973
- Testing
- ATB200, AT2221
- Where
- 4 sites in United States, Italy and 1 more
- Sponsor
- Amicus Therapeutics
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
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
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 (Late-onset)
Evaluation of the Safety and Efficacy of Late-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
- NCT06391736
- Testing
- GC301
- Where
- China
- Volunteers
- 33 people
- Sponsor
- GeneCradle Inc
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, 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 (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
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 Infantile-Onset, Glycogen Storage Disease Type II
Extension Study of Long-term Safety and Efficacy of Myozyme in Patients With Pompe Disease Who Were Previously Enrolled in Genzyme Sponsored Enzyme Replacement Therapy (ERT) Studies
This extension study was to monitor the long-term safety and efficacy of rhGAA treatment in patients with infantile-onset Pompe disease who were previously treated with rhGAA derived from the Synpac cell line
- Trial name
- NCT00763932
- Testing
- Myozyme
- Where
- 8 sites in United States, France and 1 more
- Volunteers
- 7 people
- Sponsor
- Genzyme, a Sanofi Company
Glycogen Storage Disease Type II
A Study of the Safety and Efficacy of rhGAA in Patients With Infantile-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
- NCT00059280
- Testing
- Myozyme
- Where
- 8 sites in United States, France and 3 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, 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 (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
Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)
The purpose of this study is to evaluate the safety, pharmacodynamics (PD), and exploratory clinical efficacy of S-606001 in adult participants with LOPD as an add-on to ERT.
- Trial name
- NCT07123155
- Testing
- S-606001
- Where
- 28 sites in United States, Belgium and 7 more
- Volunteers
- 45 people
- Sponsor
- Shionogi
Late-onset Pompe Disease
A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of DNL952 in Adult Participants With Late-Onset Pompe Disease
This is a Phase 1, multicenter, open-label study to evaluate the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of DNL952 in adult participants with late-onset Pompe disease.
- Trial name
- NCT07354724
- Testing
- DNL952
- Where
- 4 sites in United States
- Volunteers
- 32 people
- Sponsor
- Denali Therapeutics Inc.
Glycogen Storage Disease Type II, Glycogenosis 2
Expanded Access Use 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).
- Trial name
- NCT00074932
- Testing
- Myozyme
- Where
- 8 sites in United States
- Volunteers
- 9 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