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AveXis Announces Completed Enrollment of Phase 1 Clinical Trial for AVXS-101 in Spinal Muscular Atrophy Type 1

Chicago, Ill. – January 4, 2016 – AveXis, Inc., a clinical-stage gene therapy company developing novel treatments for patients suffering from rare and life-threatening neurological genetic diseases, today announced patient enrollment has completed for the Phase 1 clinical trial of AVXS-101 for the treatment of spinal muscular atrophy (SMA) Type 1.

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

  • Cohort 1 includes three patients dosed at (6.7 X1013 vg/kg), aged six to seven months at time of dosing;
  • Cohort 2 includes 12 patients dosed at (2.0 X1014 vg/kg), aged one to eight months at time of dosing.

“We are pleased to have reached this important initial clinical milestone in our effort to bring AVXS -101 to patients who suffer from SMA Type 1, a devastating disease for which there are currently no FDA-approved therapies,” said Sean Nolan, President and Chief Executive Officer of AveXis. “The data from this initial trial will inform future clinical studies in Type 1 and potentially other types of SMA. We look forward to reviewing the data from this study over the coming year as we continue the development of AVXS-101.”

Phase 1 Trial Design
The open-label, dose-escalation study is designed to evaluate safety and preliminary indications of efficacy of AVXS-101 in patients suffering from 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, and 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 one month after dosing. After the first month, additional evaluations are conducted monthly for 23 months.

About SMA

SMA is a severe neuromuscular disease characterized by the loss of motor neurons leading to progressive muscle weakness and paralysis. SMA is caused by a genetic defect in the SMN1 gene that codes SMN, a protein necessary for survival of motor neurons. The incidence of SMA is approximately one in 10,000 live births.

The most severe form of SMA is Type 1, a lethal genetic disorder characterized by motor neuron loss and associated muscle deterioration, which results in mortality or the need for permanent ventilation support before the age of two for greater than 90 percent of patients. SMA Type 1 is the leading genetic cause of infant mortality.

About AveXis, Inc.
AveXis is a clinical-stage gene therapy company developing treatments for patients suffering from rare and life-threatening neurological genetic diseases. The company’s initial proprietary gene therapy product candidate, AVXS-101, is in an ongoing Phase 1 clinical trial for the treatment of SMA Type 1. For more information about AveXis, please visit

Media Inquiries:
Lauren Barbiero
W2O Group