Clinical Research Study Viewer

Phase 1 Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1

Enrollment for this trial is complete.

Purpose of Study:

This study is a phase I, single-site, dose escalation study to evaluate the safety and efficacy of gene transfer for Spinal Muscular Atrophy Type 1 (SMA1). Enrollment is at Nationwide Children’s Hospital in Columbus, Ohio. Infants between 0 and 9 months of age with SMA1 at the time of gene transfer may be eligible to take part in this first human trial. A total of nine patients will be enrolled to receive a one-time gene transfer infusion. Patients will continue to be monitored at Nationwide Children’s Hospital including physical exams and blood tests for two years after gene transfer.

Who can participate in this study:
Age: Nine months of age and younger at the time of gene transfer

Inclusion Criteria:

  • Mutations of the SMN1 gene with two copies of SMN2 (no more and no fewer)
  • Onset of disease at birth to 6 months of age
  • Weakness of muscles and joints demonstrated at time of enrollment

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.
  • Current illness that in the opinion of the researcher creates unnecessary risks for gene transfer
  • Current 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 recent SMA treatment clinical trial that in the opinion of the researcher 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 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.

Who to contact:
If you are interested in this study, please contact the Research Coordinator, Sohyun McElroy, Ph.D., CCRC, Phone: (614) 355-2606.

A description of the study is also listed at the website with the identifier NCT02122952


Nationwide Children's Hospital
700 Children's Drive Columbus, Ohio 43205 614.722.2000