Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen: Journal of Pediatrics

V.A. Sansone, A. Pirola, E. Albamonte, M. Pane, A. Lizio, A. D'Amico, M. Catteruccia, R. Cutrera, C. Bruno, M. Pedemonte, S. Messina, F. Rao, E. Roma, F. Salmin, G. Coratti, A. Di Bari, R. De Sanctis, C.M. Pera, M. Sframeli, M. PiastraF. Macagno, G. Vita, E. Bertini, E. Mercuri

Research output: Contribution to journalArticlepeer-review


Objective: To evaluate the effects of nusinersen on respiratory function of patients with type 1 spinal muscular atrophy. Study design: 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, 6 months, and 10 months after the first nusinersen treatment. Patients were stratified according to ventilation modalities and age at study entry. Results: Most patients in our cohort remained stable (84/109 = 77%). More than 80% of the children treated before age 2 years survived, in contrast to the lower survival reported in natural history studies, and did so without tracheostomy or noninvasive ventilation (NIV) ≥16 hours. In those less than 2 years old, only 3 patients shifted from NIV ≤10 hours to NIV >10 hours, 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 >10 hours but also 75% of those on NIV ≤10 hours. Conclusions: 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 ≥16 hours, especially before the age of 2 years.

Original languageEnglish
Pages (from-to)223
JournalJ. Pediatr.
Publication statusPublished - 2020


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