Spinal muscular atrophy (SMA) - Healing Genes

Spinal muscular atrophy (SMA)

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Study of Intrathecal Administration of AVXS-101 for Spinal Muscular Atrophy

Phase I, Open-Label, Dose Comparison Study of AVXS-101 for Sitting But Non-ambulatory Patients With Spinal Muscular Atrophy

Phase 1


Doctors seek infant and child participants with a genetic diagnosis consistent with Spinal Muscular Atrophy (SMA), specific genetic markers, and who are able to sit but not stand or walk, for an investigative gene therapy.

Study participants will receive a single dose of an investigatory gene therapy drug designed to deliver a gene into motor neuron cells and improve their function through production of SMN (survival motor neuron) protein. The gene therapy, administered in a spinal injection, is delivered via a harmless virus that transfers the SMN gene into the patient’s DNA. The goal of this therapy is to prevent further muscle generation and improve motor function, including walking independently. The study goals include determining the best dose for the therapy.


  • Be ≥ 6 months and up to 60 months of age
  • Be able to sit unassisted for ≥ 10 seconds but unable to stand or walk
  • Have a genetic test confirming specific genetic mutations
  • Onset of SMA at < 12 months of age
  • Be up to date on childhood vaccines
  • Not have severe scoliosis, past ability to walk independently, or symptoms that will interfere with the ability to receive a spinal injection


  1. Prescreening to confirm eligibility of the patient to participate.
  2. A single spinal injection of a specific dose of the investigatory drug, with observation to follow immediately and watch for adverse events.
  3. Upon a review of the first group of patients, at least one and possibly 2 more groups of patients will receive a higher dose of the same drug.
  4. Each participant will be followed for 12 months for their progression to milestones including standing, walking, and overall motor function.


10 Locations in the US are recruiting participants for this study.

Contact: AveXis MedInfo  |  [email protected]  |  833-828-3947


AveXis MedInfo

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