Glycogen Storage Disease Type II
Conditions
Keywords
Glycogen Storage Disease Type II, GSD-II, Pompe Disease, Pompe Disease (Late-onset), Acid Maltase Deficiency Disease, Glycogenosis 2, Glycogen Storage Disease Type II (GSD-II)
Brief summary
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). 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 Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. The overall objective of this study is to evaluate the long-term safety and efficacy of Myozyme treatment in patients with infantile-onset Pompe disease.
Interventions
BIOLOGICALMyozyme
20 mg/kg qow or 40 mg/kg qow
Sponsors
Genzyme, a Sanofi Company
Study design
Allocation
RANDOMIZED
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* The patient's legal guardian(s) must provide written informed consent prior to any study-related procedures being performed * The patient and his/her legal guardian(s) must have the ability to comply with the clinical protocol * The patient must have completed Protocol AGLU01602.
Exclusion criteria
* Patient has experienced any unmanageable adverse event (AE) in Protocol AGLU01602 due to Myozyme that would preclude continuing treatment with Myozyme
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Long-term Safety and Efficacy | 52 weeks |
Countries
France, Germany, Israel, Italy, Netherlands, Taiwan, United States
Outcome results
None listed