Gene Replacement Therapy Yields Favorable Respiratory Outcomes in Patients With SMA

Gene replacement therapy (GRT) was associated with favorable respiratory outcomes in patients with spinal muscular atrophy (SMA), according to findings published in Pediatric Pulmonology.

SMA is characterized by hypotonia, respiratory failure, and early death. The arrival of GRT changed the SMA landscape, investigators said, but “more data is needed to understand the long-term effect of GRT on measurable respiratory outcomes.”

The retrospective chart review involved 11 pediatric patients with genetically confirmed SMA who were treated with GRT between 2019 and 2021 in Qatar. Of these, 9 patients had SMA type 1 and received GRT at a median age of 12 months, while the remaining 2 patients had SMA type 2 and were treated at a median 22 months of age.

Following GRT, 10 patients were successfully weaned off noninvasive ventilation, while 1 patient continued mechanical ventilation by way of a tracheostomy tube.

Over a 2-year period, researchers also found the annual hospitalization rate fell by half, and the average length of intensive care unit stay was reduced by 17.32 days per patient per year. Additionally, the duration of escalated respiratory support for hospitalized patients fell by 18.56 days per patient per year.

“GRT resulted in discontinuation of chronic respiratory support in majority of ventilated patients,” the research team concluded.

Reference:
AlNaimi A, Hamad SG, Mohamed RBA, et al. A breakthrough effect of gene replacement therapy on respiratory outcomes in children with spinal muscular atrophy. Pediatr Pulmonol. Published online December 19, 2022. doi:10.1002/ppul.26285