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This study evaluates re-administration of a gene therapy (delivering the acid alpha-glucosidase gene into muscle via the AAV9 vector) in patients with late-onset Pompe disease (an inherited muscle/storage disease caused by GAA gene mutations). It included patients aged 18-50 with a diagnosis confirmed by GAA gene sequencing/enzyme assay. It was a Phase 1 study 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: * Male or female subjects 18 to 50-years old * Have a diagnosis of Pompe disease, as defined by protein assay AND/OR DNA sequence of the acid alpha-glucosidase gene, AND clinical symptoms of the disease * Have residual ability to complete the 10 meter walk test * Willing to discontinue aspirin, aspirin-containing products and other drugs that may alter platelet function, 7 days prior to dosing, resuming 24 hours after the dose has been administered * Consistently taking enzyme replacement therapy (ERT) or remain off ERT from baseline until Day 520 * United States residents only. Exclusion Criteria: * Be pregnant or nursing, and if the subject is of child bearing potential they should use contraception until the end of the study * Have required oral or systemic corticosteroids within the last 15 days prior to baseline screening * Have a platelet count less than 75,000/mm\^3 * Have an INR greater than 1.3 * Have seronegative to AAV9 capsid protein (neutralizing Ab titers \<1:5 and total binding Ab titer \<50 U/ml) * Have transaminases and alkaline phosphatase more than ten times the upper limit of normal at screening or Day-1 * Have bilirubin and gamma-glutamyl transpeptidase greater than 2 times the upper limit of normal at screening or Day -1 * Have any chronic liver disease (aside from hepatic dysfunction related to Pompe disease) such as hepatitis B and C and cirrhosis * Be currently, or within the past 30 days, participating in any other research protocol involving investigational agents or therapies * Have history of platelet dysfunction, evidence of abnormal platelet function at screening, or history of recent use of drugs that may alter platelet function, which the subject is unable/unwilling to discontinue for study agent administration * Have received gene transfer agents within the past 6 months * Have any medical condition or circumstance for which an MRI evaluation is contraindicated * Have any other concurrent condition that, in the opinion of the investigator, would make the subject unsuitable for the study * Inconsistent with use of ERT.