In SMA, the survival motor neuron 1 gene (SMN1), which gives the body instructions for producing a protein called survival motor neuron (SMN), is missing or not working properly. Gene replacement therapy provides the body with a working copy of the gene. AVXS-101 is an experimental gene replacement therapy for SMA. Its aim is to replace the gene that is missing or not working properly.
Put simply, a working SMN gene will be given to your baby through a needle inserted into a vein (IV infusion) one time. The SMN replacement gene is placed in a kind of package (known as a vector) that allows it to go into cells. In this SPR1NT research study, the vector is a modified adeno-associated virus called AAV9. The AAV9 virus used in the study does not cause known disease in humans.