The Daily Bulletin Archive

Please join the Chemistry Department for the first seminar of the fall 2023 seminar series, "Onasemnogene Abeparvovec for Presymptomatic Infants with Two Copies of SMN2 at Risk for Spinal Muscular Atrophy Type 1: The Phase III SPR1NT Trial," presented by Elizabeth Brown, graduate student in the M.S. forensic science program, on Thursday, October 5, from 12:15 to 1:30 p.m. in Science and Mathematics Complex 176.

Abstract
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder, which is characterized by the degeneration of alpha motor neurons in the spinal cord. This is due to insufficient production of the survival of motor neurons (SMN) protein resulting from a biallelic deletion of  the required SMN gene. Affected patients experience progressive proximal muscle weakness and paralysis, which can be expressed in infants. Children with Type 1 SMA are limited to a life span of less than 2 years if treatment is not readily sought. This seminar will focus on a recently FDA-approved drug, onasemnogene abeparvovec. The therapy introduces a fully functioning SMN1 gene to motor neuron cells, allowing the subject to thrive while not reversing past damage. This treatment has previously been observed in symptomatic patients but was not yet tested in presymptomatic infants. Here, a group of genetically but not clinically confirmed cases were subjected to treatment, under the hypothesis that earlier administration of SMN gene therapy results in a higher quality of life for the individual. The observations of this study will be discussed, as well as some future outlooks for the treatment of SMA.