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This study examined the safety and pharmacokinetics (how the drug moves through the body) of rhGAA (Alglucosidase alfa) in siblings with glycogen storage disease type II (Pompe disease). Patients with confirmed low GAA enzyme activity who had a similarly affected sibling could take part. The study was carried out in Phase 2 and has been completed.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
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.