Study of Inthrathecal Administration of AVXS-101 for Spinal Muscular Atrophy
muscular atrophy (SMA) is a rare genetic condition in which muscles
throughout the body are weakened because cells in the spinal cord and brainstem
do not work properly. Typically, SMN1 genes provide instructions for producing
SMN proteins, which are needed for motor neurons (nerve cells that control
motor function) to survive. SMA is caused by a mutation in the SMN1 gene, which
leads to a deficiency of survival motor neuron (SMN) proteins.
This Phase I study aims to evaluate the safety and
tolerability of AVXS-101, a form of gene therapy that delivers a working copy
of the SMN1 gene to motor neurons in SMA patients.
Patients participating in this study must have three copies
of the SMN2 gene. The SMN2 gene is nearly identical to the SMN1 gene with the major
difference being a single nucleotide that leads to unstable proteins that serve
no biological function.