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This study evaluates a gene therapy (AVXS-101, delivering a working copy of the missing SMN1 gene) in infants with Type 1 Spinal Muscular Atrophy (SMA, a severe inherited muscle disease caused by an SMN1 gene mutation). It included infants younger than 6-9 months with biallelic SMN1 mutations and 2 copies of SMN2. 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: * Six or nine months of age and younger (depending on cohort) on day of vector infusion with Type 1 SMA as defined by the following features: * Diagnosis of SMA based on gene mutation analysis with bi-allelic SMN1 mutations (deletion or point mutations) and 2 copies of SMN2. * Onset of disease at birth up to 6 months of age. * Hypotonia by clinical evaluation with delay in motor skills, poor head control, round shoulder posture and hypermobility of joints. Exclusion Criteria: * Active viral infection (includes HIV or serology positive for hepatitis B or C) * Use of invasive ventilatory support (tracheotomy with positive pressure)\* or pulse oximetry \<95% saturation. * Patients may be put on non-invasive ventilator support (BiPAP) for less than 16 hours a day at the discretion of their physician or research staff. * Concomitant illness that in the opinion of the PI creates unnecessary risks for gene transfer * Concomitant use of any of the following drugs: drugs for treatment of myopathy or neuropathy, agents used to treat diabetes mellitus, or ongoing immunosuppressive therapy or immunosuppressive therapy within 3 months of starting the trial (e.g. corticosteroids, cyclosporine, tacrolimus, methotrexate, cyclophosphamide, intravenous immunoglobulin, rituximab) * Patients with Anti-AAV9 antibody titers \>1:50 as determined by ELISA binding immunoassay. * Abnormal laboratory values considered clinically significant (GGT \> 3XULN, bilirubin ≥ 3.0 mg/dL , creatinine ≥ 1.8 mg/dL, Hgb \< 8 or \> 18 g/Dl; WBC \> 20,000 per cmm) Participation in a recent SMA treatment clinical trial that in the opinion of the PI creates unnecessary risks for gene transfer. * Family does not want to disclose patient's study participation with primary care physician and other medical providers. * Patient with signs of aspiration based on a swallowing test and unwilling to use an alternative method to oral feeding. * Patients with a single base substitution in SMN2 (c.859G\>C in exon 7) will be excluded based on predicted mild phenotype.