Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen

Abstract

To evaluate the effects of nusinersen on respiratory function of patients with type 1 spinal muscular atrophy. Observational, longitudinal cohort study. We collected respiratory data from 118 children with type 1 spinal muscular atrophy and differing pulmonary requirements and conducted a semistructured qualitative interview among a subsample of caregivers at baseline, 6months, and 10months after the first nusinersen treatment. Patients were stratified according to ventilation modalities and age at study entry. Most patients in our cohort remained stable (84/109=77%). More than 80% of the children treated before age 2years survived, in contrast to the lower survival reported in natural history studies, and did so without tracheostomy or noninvasive ventilation (NIV) ≥16hours. In those less than 2years old, only 3 patients shifted from NIV ≤10hours to NIV >10hours, and the other 3 reduced the hours of NIV required. Most of the older patients remained stable; this included not only those on tracheostomy or NIV >10hours but also 75% of those on NIV ≤10hours. Our results suggest that nusinersen may produce some improvement in the progression of respiratory impairment, both in terms of survival and need for respiratory support ≥16hours, especially before the age of 2years.