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.

Sansone, V. A., Pirola, A., Albamonte, E., Pane, M., Lizio, A., D'amico, A., Catteruccia, M., Cutrera, R., Bruno, C., Pedemonte, M., Messina, S., Rao, F., Roma, E., Salmin, F., Coratti, G., Di Bari, A., De Sanctis, R., Pera, C. M., Sframeli, M., Piastra, M., Macagno, F., Vita, G., Bertini, E., Mercuri, E., Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated&nbsp;with Nusinersen, <<THE JOURNAL OF PEDIATRICS>>, 2020; 219 (APR): 223-228. [doi:10.1016/j.jpeds.2019.12.047] [http://hdl.handle.net/10807/213607]

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

Pane, Marika;Coratti, Giorgia;De Sanctis, Roberto;Pera, Carmela Maria;Piastra, Marco;Macagno, Francesco;Bertini, Enrico;Mercuri, Eugenio
2020

Abstract

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.
Inglese
Sansone, V. A., Pirola, A., Albamonte, E., Pane, M., Lizio, A., D'amico, A., Catteruccia, M., Cutrera, R., Bruno, C., Pedemonte, M., Messina, S., Rao, F., Roma, E., Salmin, F., Coratti, G., Di Bari, A., De Sanctis, R., Pera, C. M., Sframeli, M., Piastra, M., Macagno, F., Vita, G., Bertini, E., Mercuri, E., Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated&nbsp;with Nusinersen, <<THE JOURNAL OF PEDIATRICS>>, 2020; 219 (APR): 223-228. [doi:10.1016/j.jpeds.2019.12.047] [http://hdl.handle.net/10807/213607]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10807/213607
Citazioni
  • ???jsp.display-item.citation.pmc??? 13
  • Scopus 31
  • ???jsp.display-item.citation.isi??? 33
social impact