Continued safety and long-term effectiveness of onasemnogene abeparvovec in Ohio

5q spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease caused by absence of the SMN1 gene[1]. Absence of SMN1 leads to insufficient survival motor neuron protein resulting in motor neuron degeneration. This manifests as progressive weakness, muscle atrophy, bulbar and respiratory weakness. Disease severity is determined largely by SMN2 copy number because each copy allows the individual to make some survival motor neuron protein [1]. Historically, phenotype was determined by highest level of motor function achieved.

Source: Neuromuscular Disorders - December 2, 2023 Category: Neurology Authors: Megan A Waldrop, Shannon Chagat, Michael Storey, Alayne Meyer, Megan Iammarino, Natalie Reash, Lindsay Alfano, Linda Lowes, Garey Noritz, Andre Prochoroff, Ian Rossman, Matthew Ginsberg, Kathryn Mosher, Eileen Broomall, Nancy Bass, Courtney Gushue, Kavith Source Type: research