Researchers have shown in animal models that delivering replacement SMN1 gene directly to the spinal cords can help make up for the insufficient amounts of SMN protein, which leads to inherited neuromuscular disease spinal muscular atrophy (SMA), and thereby extend the survival of the treated animals, a new study published in the journal Human Gene Therapy reveals.
Marco Passini and coauthors from Genzyme (Framingham, MA), University of California San Francisco, Emory University School of Medicine (Atlanta, GA), and Georgetown University Medical Center (Washington, DC) used an adeno-associated viral vector as the delivery vehicle to transport copies of the SMN1 gene into motor neurons in the spinal cord via intrathecal delivery. They report on the effectiveness of restoring the levels of functional SMN protein in normal pig and non-human primate SMA models that would predict efficacy based on gene transfer with the same vector in an authentic mouse model of SMA in the article "Translational Fidelity of Intrathecal Delivery of Self-Complementary AAV9-Survival Motor Neuron 1 for Spinal Muscular Atrophy."
"This is a very promising and thorough set of preclinical studies that supports rapid translation to the clinic," says James M. Wilson, MD, PhD, Editor-in-Chief of Human Gene Therapy
, and Director of the Gene Therapy Program, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia.