The first approved gene therapy for a neuromuscular disease is now available for children with spinal muscular atrophy (SMA) thanks to AveXis, a Novartis company.
SMA is caused by a mutated or missing survival motor neuron 1 gene (SMN1) that prevents the body from making enough survival motor neuron protein (SMN), ultimately leading to the loss of motor neurons, muscle weakness, and paralysis seen in SMA.
Newborn screening requirements for SMA in Arizona is the next important step.