P231 Early intervention and speed-to-effect in spinal muscular atrophy type 1 following onasemnogene abeparvovec gene replacement therapy

Spinal muscular atrophy (SMA) type 1 is a severe genetic neuromuscular disease that is caused by a defect in the survival motor neuron 1 (SMN1) gene, and that leads to rapid deterioration of motor neurons when left untreated. Onasemnogene abeparvovec is a one-time gene replacement therapy approved for treatment of SMA. Durable efficacy has been demonstrated in clinical trials and long-term follow-up studies. Here, we highlight the speed of post-treatment effect of onasemnogene abeparvovec. We assessed the early post-treatment impact of onasemnogene abeparvovec on motor function in symptomatic infants with SMA type 1, as measured by changes in CHOP INTEND.

Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Authors: W. Toro, S. Reyna, S. Ritter, A. Patel, N. Mumneh, O. Dabbous Source Type: research