Clinical Research Study Viewer

Phase 1 Gene Transfer Clinical Trial for Spinal Muscular Atrophy (SMA) Type 1

This study is closed to enrollment and no longer accepting participants.

Study Details

Principal Investigator

Jerry Mendell, MD, Nationwide Children's Hospital

Study Title and Phase

Gene transfer clinical trial for SMA Type 1 delivering survival motor neuron gene by self-complementary AAV9, Phase I

Study Duration

Two years. Follow-up visits at 1 week, 2 weeks, 3 weeks, 1 month, and then once every month up to 2 years of age. Annual standard care monitoring for up to 15 years.

Inclusion Criteria

  • Confirmed diagnosis of Spinal Muscular Atrophy (SMA)
    • Bi-allelic SMN1 mutation (deletion or point)
    • 2 copies of SMN2
  • Disease onset between birth and 6 months of age
  • Hypotonia (delay in motor skills, round shoulder posture, poor head control and hypermobility of joints)

Exclusion Criteria

  • Active viral infection
  • Invasive ventilator support (excluding BiPAP if < 16 hrs/day)
  • O2 saturation < 95%
  • Signs of aspiration during swallowing test
  • Clinically significant, abnormal lab values for GGT, creatinine, WBC, bilirubin, and Hgb
  • Ongoing illness or treatment in which PI deems unsafe for gene transfer
    • Drugs for treatment of myopathy
    • Drugs for treatment of neuropathy
    • Agents for treatment of diabetes mellitus
  • Immunosuppressive therapy (corticosteroids, cyclosporine, tacrolimus, etc.)
  • HIV infection
  • Hep B or C infection
  • Unwillingness to disclose study participation to primary care physician
  • AAV9 antibody titer > 1:50 by ELISA testing

Coordinator Contact Information

Christopher Petek 

Galliers, Beverly

McColly, Markus

Yetter, Brent

Roush, Kandice 
(614) 722-2558

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