A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II
Glycogen Storage Disease Type II, Pompe Disease, Acid Maltase Deficiency Disease
About this trial
This is an interventional treatment trial for Glycogen Storage Disease Type II focused on measuring Glycogen Storage Disease Type II, GSD-II, Pompe Disease
Eligibility Criteria
Inclusion Criteria: Written informed consent must be obtained from the parent or guardian prior to performing any study related procedures; Patient must have a clinical diagnosis of GSD-II confirmed by endogenous GAA activity below normal in at least one tissue; Patient must have a sibling with a clinical diagnosis of GSD-II confirmed by an endogenous GAA activity below normal in at least one tissue, who is eligible for participation in this study; Patient must have a sibling with identical GAA mutations who is eligible for participation in this study; Patient must have a sibling with evidence of different progression of GSD-II who is eligible for participation in this study; The patient or his/her guardian(s) must have the ability to comply with the clinical protocol. Exclusion Criteria: Patient has significant organic disease (with the exception of symptoms relating to GSD-II), including clinically significant cardiovascular, hepatic, pulmonary, neurologic, or renal disease, or other medical condition, serious intercurrent illness, or extenuating circumstance that, would preclude participation in the trial; Patient is participating in another investigational study.
Sites / Locations
- Saint Peter's University Hospital
Arms of the Study
Arm 1
Experimental
1