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

Valeria A. Sansone, Alice Pirola, Emilio Albamonte, Andrea Lizio, Adele D'Amico, Michela Catteruccia, Renato Cutrera, Claudio Bruno, Marina Pedemonte, Sonia Messina, Fabrizio Rao, Elisabetta Roma, Francesca Salmin, Giorgia Coratti, Alessandra Di Bari, Roberto De Sanctis, Carmela Maria Pera, Maria Sframeli, Marco Piastra, Francesco MacagnoGiuseppe Vita, Enrico Bertini, Eugenio Maria Mercuri

Risultato della ricerca: Contributo in rivistaArticolo in rivista

17 Citazioni (Scopus)


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.
Lingua originaleEnglish
pagine (da-a)223-228.e4
Stato di pubblicazionePubblicato - 2020


  • SMA1
  • nusinersen
  • respiratory function
  • ventilation


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