Ignite Creation Date:
2025-12-24 @ 10:35 PM
Ignite Modification Date:
2025-12-25 @ 8:07 PM
Study NCT ID:
NCT00051935
Status:
COMPLETED
Last Update Posted:
2014-02-05
First Post:
2003-01-17
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II
Sponsor:
Genzyme, a Sanofi Company
Organization:
Study Overview
Official Title:
Open-Label, Pilot Study of the Safety, Pharmacokinetics and Pharmacodynamics of Recombinant Human Acid Alpha-Glucosidase (rhGAA) as Enzyme Replacement Therapy in Siblings With Glycogen Storage Disease Type II (GSD-II).
Status:
COMPLETED
Status Verified Date:
2014-02
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
GSD-II (also known as 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 called lysosomes. In patients with GSD-II, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. This study is being conducted to evaluate the safety, pharmacokinetics, pharmacodynamics and efficacy of recombinant human acid alpha-glucosidase (rhGAA) as a potential enzyme replacement therapy for a pair of siblings with GSD-II. To be eligible for this study, a patient must have a confirmed diagnosis of GSD-II and have a sister or brother who also has a confirmed diagnosis of GSD-II.
Detailed Description:
None
Study Oversight
Has Oversight DMC:
Is a FDA Regulated Drug?:
Is a FDA Regulated Device?:
Is an Unapproved Device?:
Is a PPSD?:
Is a US Export?:
Is an FDA AA801 Violation?: