The purpose of SMA Europe is to provide a framework to stimulate collaboration and accelerate translational research pathways in SMA and promote patient care.

  1. AveXis completes phase 1 clinical trial enrollment

    AveXis has announced that they have completed enrollment in a Phase 1 study testing systemic delivery of gene therapy product AVXS-101, for spinal muscular atrophy.

    The open-label, dose-escalation study is designed to evaluate safety and preliminary indications of efficacy of AVXS-101 in patients with SMA Type 1. The primary outcome in the study is safety and tolerability. The secondary outcome measure is efficacy as defined by the time from birth to an “event,” with an event defined as death or until a patient requires at least 16 hours per day of required ventilation support for breathing for 14 consecutive days in the absence of an acute reversible illness or perioperatively. Exploratory outcome measures include motor function testing, measured by the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND), a test developed to measure motor skills of patients with SMA Type 1, as well as other motor milestone development surveys and tests.

    The clinical protocol requires that each patient receive a one-time dosage of AVXS-101, by intravenous injection over a one hour period. The patient remains at the clinical trial site for 48 hours after dosing for monitoring prior to discharge, and weekly follow-up evaluations are conducted for 1 month after dosing. After the first month, additional evaluations are conducted monthly for 23 months.

    The trial has enrolled a total of 15 patients who met enrollment criteria of diagnosis of SMA Type 1 before 6 months of age, with 2 copies of the SMN2 backup gene, as determined by genetic testing. The trial includes two dosing cohorts:

    • Cohort 1 includes 3 patients dosed at (6.7 X1013 vg/kg), aged 6 to 7 months at time of dosing;
    • Cohort 2 includes 12 patients dosed at (2.0 X1014 vg/kg), aged 1 to 8 months at time of dosing.

    The study site is at the Nationwide Children’s Hospital in Columbus, Ohio, USA.

    For more information, please follow the links below: