Nusinersen: Single-Centre Real-Life Experience in Type 1 Spinal Muscular Atrophy
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://doi.org/10.25754/pjp.2021.21315 |
Resumo: | 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. |
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Nusinersen: Single-Centre Real-Life Experience in Type 1 Spinal Muscular AtrophyCase seriesIntroduction: 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.Sociedade Portuguesa de Pediatria2021-11-03info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttps://doi.org/10.25754/pjp.2021.21315eng2184-44532184-3333Lomba, AndreiaA. Ribeiro, JoanaAraújo, HenriquetaRibeiro, VeraMadureira, NúriaPalavra, FilipeCosta, CarmenFineza, Isabelinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-08-03T02:58:13Zoai:ojs.revistas.rcaap.pt:article/21315Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:25:36.500745Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Nusinersen: Single-Centre Real-Life Experience in Type 1 Spinal Muscular Atrophy |
title |
Nusinersen: Single-Centre Real-Life Experience in Type 1 Spinal Muscular Atrophy |
spellingShingle |
Nusinersen: Single-Centre Real-Life Experience in Type 1 Spinal Muscular Atrophy Lomba, Andreia Case series |
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 |
author |
Lomba, Andreia |
author_facet |
Lomba, Andreia A. Ribeiro, Joana Araújo, Henriqueta Ribeiro, Vera Madureira, Núria Palavra, Filipe Costa, Carmen Fineza, Isabel |
author_role |
author |
author2 |
A. Ribeiro, Joana Araújo, Henriqueta Ribeiro, Vera Madureira, Núria Palavra, Filipe Costa, Carmen Fineza, Isabel |
author2_role |
author author author author author author author |
dc.contributor.author.fl_str_mv |
Lomba, Andreia A. Ribeiro, Joana Araújo, Henriqueta Ribeiro, Vera Madureira, Núria Palavra, Filipe Costa, Carmen Fineza, Isabel |
dc.subject.por.fl_str_mv |
Case series |
topic |
Case series |
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. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-11-03 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://doi.org/10.25754/pjp.2021.21315 |
url |
https://doi.org/10.25754/pjp.2021.21315 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
2184-4453 2184-3333 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.publisher.none.fl_str_mv |
Sociedade Portuguesa de Pediatria |
publisher.none.fl_str_mv |
Sociedade Portuguesa de Pediatria |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
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1799133524884717568 |