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 Genovese; Enrico Bertini; Giuseppe Vita; Francesco Danilo Tiziano; Eugenio Mercuri

doi:10.1002/ana.25533

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 language	English
Pages (from-to)	443-451
Number of pages	9
Journal	Annals of Neurology
Volume	86
Issue number	3
DOIs	https://doi.org/10.1002/ana.25533
Publication status	Published - 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

Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data. / Group, Italian Expanded Access Program Working; 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.

In: Annals of Neurology, Vol. 86, No. 3, 01.09.2019, p. 443-451.

Research output: Contribution to journal › Article

Group, IEAPW, Pane, M , Coratti, G, Sansone, VA, 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, Genovese, O, Bertini, E, Vita, G, Tiziano, FD & Mercuri, E 2019, 'Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data', Annals of Neurology, vol. 86, no. 3, pp. 443-451. https://doi.org/10.1002/ana.25533

Group, Italian Expanded Access Program Working ; 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. / Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data. In: Annals of Neurology. 2019 ; Vol. 86, No. 3. pp. 443-451.

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title = "Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data",

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 ",

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

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AU - Group, Italian Expanded Access Program Working

AU - Pane, Marika

AU - Coratti, Giorgia

AU - Sansone, Valeria A

AU - Messina, Sonia

AU - Bruno, Claudio

AU - Catteruccia, Michela

AU - Sframeli, Maria

AU - Albamonte, Emilio

AU - Pedemonte, Marina

AU - D'Amico, Adele

AU - Bravetti, Chiara

AU - Berti, Beatrice

AU - Brigati, Giorgia

AU - Tacchetti, Paola

AU - Salmin, Francesca

AU - de Sanctis, Roberto

AU - Lucibello, Simona

AU - Piastra, Marco

AU - Genovese, Orazio

AU - Bertini, Enrico

AU - Vita, Giuseppe

AU - Tiziano, Francesco Danilo

AU - Mercuri, Eugenio

PY - 2019/9/1

Y1 - 2019/9/1

N2 - 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

AB - 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

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DO - 10.1002/ana.25533

M3 - Article

VL - 86

SP - 443

EP - 451

JO - Annals of Neurology

JF - Annals of Neurology

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ER -

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

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