Nusinersen: Single-Centre Real-Life Experience in Type 1 Spinal Muscular Atrophy

Introduction: Nusinersen, an antisense oligonucleotide designed to treat spinal muscular atrophy, led to substantial motor milestone achievements in clinical trials. The aim of this study was to report the clinical outcome of children diagnosed with spinal muscular atrophy type 1 treated with nusin...

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Autores principales:	Andreia Lomba, Joana A. Ribeiro, Henriqueta Araújo, Vera Ribeiro, Núria Madureira, Filipe Palavra, Carmen Costa, Isabel Fineza
Formato:	article
Lenguaje:	EN PT
Publicado:	Sociedade Portuguesa de Pediatria 2021
Materias:	Pediatrics RJ1-570 Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/828fb533814c45c68d07e54b9f60eae3
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spelling	oai:doaj.org-article:828fb533814c45c68d07e54b9f60eae32021-11-04T15:21:25ZNusinersen: Single-Centre Real-Life Experience in Type 1 Spinal Muscular Atrophy2184-33332184-4453https://doaj.org/article/828fb533814c45c68d07e54b9f60eae32021-11-01T00:00:00Zhttps://pjp.spp.pt/article/view/21315https://doaj.org/toc/2184-3333https://doaj.org/toc/2184-4453 Introduction: Nusinersen, an antisense oligonucleotide designed to treat spinal muscular atrophy, led to substantial motor milestone achievements in clinical trials. The aim of this study was to report the clinical outcome of children diagnosed with spinal muscular atrophy type 1 treated with nusinersen in a tertiary centre. Methods: Retrospective study of type 1 spinal muscular atrophy patients treated with nusinersen for more than six months. Clinical, genetic, ventilation and feeding parameters were obtained. Motor assessment included Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders. Results: Four patients were eligible for this evaluation, with a current mean age of 33.8 months (range 25-42 months), three with two copies of SMN2 gene and one with three copies. The mean time from first symptoms to diagnosis confirmation was 3 months (range 0.3-10.0 months) and from diagnosis confirmation to the beginning of treatment 1.2 months (range 0.5-1.7 months). All patients improved at least eleven points in motor score (mean change: 18.5 points). Three patients achieved stable sitting and one sits with support. They are all free from continuous ventilation. The mean number of hospital admissions due to respiratory exacerbations per year variated from 0 to 4.2. Gastrostomy was performed in two patients and two have total oral feeding. Discussion: We observed an improvement in motor function and ventilatory support in spinal muscular atrophy type 1 patients treated with nusinersen. Despite our small sample, our findings contribute to the increasing evidence that early diagnosis and treatment is paramount for these patients. Andreia LombaJoana A. RibeiroHenriqueta AraújoVera RibeiroNúria MadureiraFilipe PalavraCarmen CostaIsabel FinezaSociedade Portuguesa de PediatriaarticlePediatricsRJ1-570Medicine (General)R5-920ENPTPortuguese Journal of Pediatrics , Vol 52, Iss 4 (2021)
institution	DOAJ
collection	DOAJ
language	EN PT
topic	Pediatrics RJ1-570 Medicine (General) R5-920
spellingShingle	Pediatrics RJ1-570 Medicine (General) R5-920 Andreia Lomba Joana A. Ribeiro Henriqueta Araújo Vera Ribeiro Núria Madureira Filipe Palavra Carmen Costa Isabel Fineza Nusinersen: Single-Centre Real-Life Experience in Type 1 Spinal Muscular Atrophy
description	Introduction: Nusinersen, an antisense oligonucleotide designed to treat spinal muscular atrophy, led to substantial motor milestone achievements in clinical trials. The aim of this study was to report the clinical outcome of children diagnosed with spinal muscular atrophy type 1 treated with nusinersen in a tertiary centre. Methods: Retrospective study of type 1 spinal muscular atrophy patients treated with nusinersen for more than six months. Clinical, genetic, ventilation and feeding parameters were obtained. Motor assessment included Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders. Results: Four patients were eligible for this evaluation, with a current mean age of 33.8 months (range 25-42 months), three with two copies of SMN2 gene and one with three copies. The mean time from first symptoms to diagnosis confirmation was 3 months (range 0.3-10.0 months) and from diagnosis confirmation to the beginning of treatment 1.2 months (range 0.5-1.7 months). All patients improved at least eleven points in motor score (mean change: 18.5 points). Three patients achieved stable sitting and one sits with support. They are all free from continuous ventilation. The mean number of hospital admissions due to respiratory exacerbations per year variated from 0 to 4.2. Gastrostomy was performed in two patients and two have total oral feeding. Discussion: We observed an improvement in motor function and ventilatory support in spinal muscular atrophy type 1 patients treated with nusinersen. Despite our small sample, our findings contribute to the increasing evidence that early diagnosis and treatment is paramount for these patients.
format	article
author	Andreia Lomba Joana A. Ribeiro Henriqueta Araújo Vera Ribeiro Núria Madureira Filipe Palavra Carmen Costa Isabel Fineza
author_facet	Andreia Lomba Joana A. Ribeiro Henriqueta Araújo Vera Ribeiro Núria Madureira Filipe Palavra Carmen Costa Isabel Fineza
author_sort	Andreia Lomba
title	Nusinersen: Single-Centre Real-Life Experience in Type 1 Spinal Muscular Atrophy
title_short	Nusinersen: Single-Centre Real-Life Experience in Type 1 Spinal Muscular Atrophy
title_full	Nusinersen: Single-Centre Real-Life Experience in Type 1 Spinal Muscular Atrophy
title_fullStr	Nusinersen: Single-Centre Real-Life Experience in Type 1 Spinal Muscular Atrophy
title_full_unstemmed	Nusinersen: Single-Centre Real-Life Experience in Type 1 Spinal Muscular Atrophy
title_sort	nusinersen: single-centre real-life experience in type 1 spinal muscular atrophy
publisher	Sociedade Portuguesa de Pediatria
publishDate	2021
url	https://doaj.org/article/828fb533814c45c68d07e54b9f60eae3
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Nusinersen: Single-Centre Real-Life Experience in Type 1 Spinal Muscular Atrophy

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