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) >= 6 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.
Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen / V. 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. Pera, M. Sframeli, M. Piastra, F. Macagno, G. Vita, E. Bertini, E. Mercuri. - In: THE JOURNAL OF PEDIATRICS. - ISSN 0022-3476. - 219(2020 Apr), pp. 223-228.e4.
|Titolo:||Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen|
SANSONE, VALERIA ADA MARIA (Primo) (Corresponding)
|Parole Chiave:||SMA1; nusinersen; respiratory function; ventilation;|
|Settore Scientifico Disciplinare:||Settore MED/26 - Neurologia|
|Data di pubblicazione:||apr-2020|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1016/j.jpeds.2019.12.047|
|Appare nelle tipologie:||01 - Articolo su periodico|