Gene Therapy Study Seeks Participants with Type 2 SMA


Researchers are looking for individuals with type 2 spinal muscular atrophy (SMA) to participate in the phase 1 STRONG clinical trial, sponsored by AveXis, to test safety, dosing and proof of concept for efficacy for its SMA gene replacement therapy AVXS-101. If your child is younger than 5 years of age and has received a diagnosis of type 2 SMA, he or she may be eligible to participate.

In this study, the gene therapy will be injected once near the lower end of the spinal cord in a procedure called an intrathecal injection. AVXS-101 is designed to deliver a new gene that can produce the Survival Motor Neuron (SMN) protein. SMN is critical to the function of the nerves that control muscles and is missing or deficient in children with SMA. Increased production of the protein may lead to improvements in muscle strength and function.

All participants in the open-label STRONG study will receive treatment with the experimental therapy. Study-related visits, tests and treatments will be provided to participants at no cost. Participation is expected to last 12 months.

To be eligible to participate, individuals must be under the age of 5 years, have three copies of the SMN2 gene, be able to sit unassisted for 10 or more seconds, be unable to stand or walk and meet additional criteria.

Trial sites are located in California, Florida, Illinois, Maryland, Massachusetts, Missouri, Ohio, Pennsylvania, Texas and Utah. Travel assistance may be available for families who don’t live near one of the research centers.

To learn more about this trial, go to and enter NCT03381729 into the search box, or visit the STRONG study website and email the trial coordinator at the site nearest you.