Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data

Italian Expanded Access Program Working Group, Marika Pane, Giorgia Coratti, Valeria A Sansone, Sonia Messina, Claudio Bruno, Michela Catteruccia, Maria Sframeli, Emilio Albamonte, Marina Pedemonte, Adele D'Amico, Chiara Bravetti, Beatrice Berti, Giorgia Brigati, Paola Tacchetti, Francesca Salmin, Roberto de Sanctis, Simona Lucibello, Marco Piastra, Orazio GenoveseEnrico Bertini, Giuseppe Vita, Francesco Danilo Tiziano, Eugenio Mercuri

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Abstract

OBJECTIVE: The aim of the study was to report 12-month changes after treatment with nusinersen in a cohort of 85 type I spinal muscular atrophy patients of ages ranging from 2 months to 15 years and 11 months.METHODS: All patients were assessed using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) and the Hammersmith Infant Neurological Examination-Section 2 (HINE-2).RESULTS: Two of the 85 patients had 1 SMN2 copy, 61 had 2 copies, and 18 had 3 copies. In 4 patients the SMN2 copy number was not available. At baseline, the mean CHOP INTEND scores ranged between 0 and 52 (mean = 15.66, standard deviation [SD] = ±13.48), and the mean HINE-2 score was between 0 and 5 (mean = 0.69, SD = ±1.23). There was a difference between baseline and the 12-month scores on both the CHOP INTEND and the HINE-2 for the whole group (p
Original languageEnglish
Pages (from-to)443-451
Number of pages9
JournalAnnals of Neurology
Volume86
Issue number3
DOIs
Publication statusPublished - Sep 1 2019

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Group, I. E. A. P. W., Pane, M., Coratti, G., Sansone, V. A., Messina, S., Bruno, C., Catteruccia, M., Sframeli, M., Albamonte, E., Pedemonte, M., D'Amico, A., Bravetti, C., Berti, B., Brigati, G., Tacchetti, P., Salmin, F., de Sanctis, R., Lucibello, S., Piastra, M., ... Mercuri, E. (2019). Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data. Annals of Neurology, 86(3), 443-451. https://doi.org/10.1002/ana.25533