This study examines a gene therapy called rAAV1-CMV-GAA in children with Pompe disease. It enrolled children aged 2-18 who were diagnosed with Pompe disease by protein assay, DNA analysis, and clinical findings, and who use ventilation support. The study was conducted in Phase 1/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: * Male or female subjects 2-18 years of age. * Have a diagnosis of Pompe, as defined by protein assay, DNA sequence of the acid alpha-glucosidase gene and clinical symptoms of the disease. * Using assisted ventilation at baseline. Mechanical Ventilation is defined as any use of ventilation support, (including but not limited to BiPAP, CPAP), a minimum of 1 hours per day. * 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. Exclusion Criteria: The subject must not: * Have required acute, as distinguished from long-term, maintenance or chronic suppressive, oral or intravenous antibiotic therapy for a respiratory infection within 15 days prior to baseline screening. * Have required oral or systemic corticosteroids within the last 15 days prior to baseline screening. * Have a platelet count less than 75,000/ cu mm. * Have an INR greater than 1.3. * Serological evidence of hepatitis B, hepatitis C, or HIV positive. * Be currently or within the past 30 days participating in any other research protocol involving investigational agents or therapies. * Have received gene transfer agents within the past 6 months. * 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 any other concurrent condition which, in the opinion of the investigator, would make the subject unsuitable for the study.