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Nusinersen in type 1 spinal muscular atrophy: Twelve‐month real‐world data
Author(s) -
Pane Marika,
Coratti Giorgia,
Sansone Valeria A.,
Messina Sonia,
Bruno Claudio,
Catteruccia Michela,
Sframeli Maria,
Albamonte Emilio,
Pedemonte Marina,
D'Amico Adele,
Bravetti Chiara,
Berti Beatrice,
Brigati Giorgia,
Tacchetti Paola,
Salmin Francesca,
de Sanctis Roberto,
Lucibello Simona,
Piastra Marco,
Genovese Orazio,
Bertini Enrico,
Vita Giuseppe,
Tiziano Francesco Danilo,
Mercuri Eugenio
Publication year - 2019
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.25533
Subject(s) - spinal muscular atrophy , physical medicine and rehabilitation , atrophy , medicine , pathology , disease
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 < 0.001), the subgroups with 2 SMN2 copies ( p < 0.001), and those with 3 SMN2 copies ( p < 0.001). The difference was found not only in patients younger than 210 days at baseline ( p < 0.001) but also in those younger than 5 years on the CHOP INTEND and younger than 2 years on the HINE‐2. Interpretation Our results, expanding the age range and the severity of type I patients treated with nusinersen over 1 year, provide additional data on the range of efficacy of the drug that will be helpful in making an informed decision on whether to start treatment in patients of different ages and severity. ANN NEUROL 2019;86:443–451