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Clinical and Electrophysiological Changes in Pediatric Spinal Muscular Atrophy after 2 Years of Nusinersen Treatment

In the new therapeutic era, disease-modifying treatment (nusinersen) has changed the natural evolution of spinal muscular atrophy (SMA), creating new phenotypes. The main purpose of the retrospective observational study was to explore changes in clinical evolution and electrophysiological data after...

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Autores principales: Axente, Mihaela, Mirea, Andrada, Sporea, Corina, Pădure, Liliana, Drăgoi, Cristina Manuela, Nicolae, Alina Crenguța, Ion, Daniela Adriana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9611420/
https://www.ncbi.nlm.nih.gov/pubmed/36297509
http://dx.doi.org/10.3390/pharmaceutics14102074
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author Axente, Mihaela
Mirea, Andrada
Sporea, Corina
Pădure, Liliana
Drăgoi, Cristina Manuela
Nicolae, Alina Crenguța
Ion, Daniela Adriana
author_facet Axente, Mihaela
Mirea, Andrada
Sporea, Corina
Pădure, Liliana
Drăgoi, Cristina Manuela
Nicolae, Alina Crenguța
Ion, Daniela Adriana
author_sort Axente, Mihaela
collection PubMed
description In the new therapeutic era, disease-modifying treatment (nusinersen) has changed the natural evolution of spinal muscular atrophy (SMA), creating new phenotypes. The main purpose of the retrospective observational study was to explore changes in clinical evolution and electrophysiological data after 2 years of nusinersen treatment. We assessed distal compound motor action potential (CMAP) on the ulnar nerve and motor abilities in 34 SMA patients, aged between 1 and 16 years old, under nusinersen treatment, using specific motor scales for types 1, 2 and 3. The evaluations were performed at treatment initiation and 26 months later. There were registered increased values for CMAP amplitudes after 2 years of nusinersen, significantly correlated with motor function evolution in SMA type 1 patients (p < 0.005, r = 0.667). In total, 45% of non-sitters became sitters and 25% of sitters became walkers. For SMA types 1 and 2, the age at the treatment initialization is highly significant (p < 0.0001) and correlated with treatment yield. A strong negative correlation (r = −0.633) was observed for SMA type 1 and a very strong negative correlation (r = −0.813) for SMA type 2. In treated SMA cases, the distal amplitude of the CMAP and motor functional scales are important prognostic factors, and early diagnosis and treatment are essential for a better outcome.
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spelling pubmed-96114202022-10-28 Clinical and Electrophysiological Changes in Pediatric Spinal Muscular Atrophy after 2 Years of Nusinersen Treatment Axente, Mihaela Mirea, Andrada Sporea, Corina Pădure, Liliana Drăgoi, Cristina Manuela Nicolae, Alina Crenguța Ion, Daniela Adriana Pharmaceutics Article In the new therapeutic era, disease-modifying treatment (nusinersen) has changed the natural evolution of spinal muscular atrophy (SMA), creating new phenotypes. The main purpose of the retrospective observational study was to explore changes in clinical evolution and electrophysiological data after 2 years of nusinersen treatment. We assessed distal compound motor action potential (CMAP) on the ulnar nerve and motor abilities in 34 SMA patients, aged between 1 and 16 years old, under nusinersen treatment, using specific motor scales for types 1, 2 and 3. The evaluations were performed at treatment initiation and 26 months later. There were registered increased values for CMAP amplitudes after 2 years of nusinersen, significantly correlated with motor function evolution in SMA type 1 patients (p < 0.005, r = 0.667). In total, 45% of non-sitters became sitters and 25% of sitters became walkers. For SMA types 1 and 2, the age at the treatment initialization is highly significant (p < 0.0001) and correlated with treatment yield. A strong negative correlation (r = −0.633) was observed for SMA type 1 and a very strong negative correlation (r = −0.813) for SMA type 2. In treated SMA cases, the distal amplitude of the CMAP and motor functional scales are important prognostic factors, and early diagnosis and treatment are essential for a better outcome. MDPI 2022-09-29 /pmc/articles/PMC9611420/ /pubmed/36297509 http://dx.doi.org/10.3390/pharmaceutics14102074 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Axente, Mihaela
Mirea, Andrada
Sporea, Corina
Pădure, Liliana
Drăgoi, Cristina Manuela
Nicolae, Alina Crenguța
Ion, Daniela Adriana
Clinical and Electrophysiological Changes in Pediatric Spinal Muscular Atrophy after 2 Years of Nusinersen Treatment
title Clinical and Electrophysiological Changes in Pediatric Spinal Muscular Atrophy after 2 Years of Nusinersen Treatment
title_full Clinical and Electrophysiological Changes in Pediatric Spinal Muscular Atrophy after 2 Years of Nusinersen Treatment
title_fullStr Clinical and Electrophysiological Changes in Pediatric Spinal Muscular Atrophy after 2 Years of Nusinersen Treatment
title_full_unstemmed Clinical and Electrophysiological Changes in Pediatric Spinal Muscular Atrophy after 2 Years of Nusinersen Treatment
title_short Clinical and Electrophysiological Changes in Pediatric Spinal Muscular Atrophy after 2 Years of Nusinersen Treatment
title_sort clinical and electrophysiological changes in pediatric spinal muscular atrophy after 2 years of nusinersen treatment
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9611420/
https://www.ncbi.nlm.nih.gov/pubmed/36297509
http://dx.doi.org/10.3390/pharmaceutics14102074
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