Spinal Muscular Atrophy (SMA) Pre-Symptomatic - Healing Genes

Spinal Muscular Atrophy (SMA) Pre-Symptomatic

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Pre-Symptomatic Study of Intravenous AVXS-101 in Spinal Muscular Atrophy (SMA) for Patients With Multiple Copies of SMN2 (SPR1NT)

A Global Study of a Single, One-Time Dose of AVXS-101 Delivered to Infants With Genetically Diagnosed and Pre-symptomatic Spinal Muscular Atrophy With Multiple Copies of SMN2

Phase 3

Doctors at several research center seek participants with Spinal Muscular Atrophy to trial a new gene replacement therapy intended to restore a functional survival motor neuron gene. This therapy, titled AVXS-101, uses virus shell, genetically engineered to contain the SMN gene DNA, inserts a correct copy of the gene into the patient’s cells. The goal of the treatment is for the patient to achieve adequate permanent production of the SMN protein. Patients with bi-allelic deletion of survival motor neuron 1 gene (SMN1) with 2 or 3 copies of survival motor neuron 2 gene (SMN2). Patients with SMN1 point mutations or the SMN2 gene modifier mutation (c.859G>C) may enroll but will not be included in the efficacy analysis sets.

The study will require admission to the hospital for ~4 days or less, a single infusion of the gene replacement drug, then follow-up until the patient reaches a goal age. The study includes a screening period, a gene replacement therapy period, and a follow-up period. After the End of Study, eligible patients will be asked to rollover into a long-term follow up study.


  • Be up to 42 days of age
  • Gestational age of 35 to 42 weeks
    • Patients with pre-symptomatic SMA Type 1 as determined by the following features:
      • − 2 copies of SMN2 Patients with 2 copies of SMN2 (n ≥12)
    • Patients with pre-symptomatic SMA Type 2 as determined by the following features:
      • 3 copies of SMN2


  1. Screening to confirm acceptance to the study.
  2. Admission to the hospital and baseline assessments performed.
  3. Single infusion of AVXS-101 drug with in-patient safety monitoring for a minimum of 24 hours post infusion.
  4. Outpatient follow up continues until the patient is 18 or 24 months of age, depending on which type of SMN gene mutation they have. After the End of Study visit, eligible patients will be asked to rollover into a long-term follow up study.

There are 29 sites conducting this study. Find the study site closest to you.

AveXis MedInfo  |  833-828-3947  |  [email protected]
AveXis, Inc.
PRA Health Sciences
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