Trach and treat: Safety and motor outcomes following onasemnogene abeparvovec in patients with spinal muscular atrophy and tracheostomies in the RESTORE registry

Abstract

We evaluated the safety and effectiveness of onasemnogene abeparvovec (OA) for 34 patients with spinal muscular atrophy (SMA) and tracheostomies enrolled in the RESTORE registry. Most patients (76.5%) received other SMA treatments before and/or after OA. Safety findings were consistent with OA's established profile. There were four fatalities, three caused by respiratory events unrelated to OA, one of unknown cause. Overall, patients exhibited positive motor outcomes, even in cases where the need for tracheostomy emerged after treatment. These real-world data support OA treatment for patients with SMA and tracheostomies and can inform future access, treatment, and care decisions.Trial registration: Clinicaltrials.gov NCT identifier NCT04174157, registration date September 12, 2019.

Keywords: onasemnogene abeparvovec; registry; respiratory; spinal muscular atrophy; tracheostomy; ventilation support.

Summary

This study looked at 34 children with spinal muscular atrophy who had a breathing tube and received the gene therapy onasemnogene abeparvovec.

Most children kept or improved their movement skills after treatment. Side effects were similar to those already known. The study suggests that needing a breathing tube does not always mean the treatment has failed, although children still need careful breathing support.

Keywords: spinal muscular atrophy, gene therapy, breathing tube, movement skills, breathing support, patient records, safety, treatment access