Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1

Study Identifier:
AVXS-101-CL-101
ClinicalTrials.gov Identifier:
NCT02122952
EudraCT Identifier:
N/A
EU CT Number:
N/A
Sponsor:
Novartis Gene Therapies
Study Complete

Trial Results

Study Protocol
Available Languages: English
View PDF
Statistical Analysis Plan
Available Languages: English
View PDF

Study Details

Medical Condition
  • Spinal Muscular Atrophy Type I
Study Drug
  • Biological: AVXS-101
Date
May 2014 - Dec 2017
Phase 1
Phase 2
Phase 3
Phase 4
Patient Requirements
Sex: Female & Male
Age: N/A - 6 Months
Requirements Information
Inclusion and Exclusion Criteria
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.

Protocol Summary

The purpose of this trial is to evaluate safety and efficacy of intravenous delivery of AVXS-101 as a treatment of spinal muscular atrophy Type 1 (SMN1).

Trial Locations

Location
Status
Location
Nationwide Children's Hospital
Columbus, Ohio, United States, 43205
Status
N/A

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