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Good response to the late treatment with ataluren in a boy with Duchenne muscular dystrophy: could the previous mild course of the disease have affected the outcome?

Duchenne muscular dystrophy (DMD) is a severe, progressive X-linked recessive disorder, caused by the absence of the dystrophin protein. A resolutive therapy for DMD is not yet available. The first approved drug for DMD patients with nonsense mutations is ataluren, approved for the treatment of chil...

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Autores principales: Pasca, Ludovica, Gardani, Alice, Paoletti, Matteo, Velardo, Daniele, Berardinelli, Angela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore Srl 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9628801/
https://www.ncbi.nlm.nih.gov/pubmed/36349184
http://dx.doi.org/10.36185/2532-1900-078
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author Pasca, Ludovica
Gardani, Alice
Paoletti, Matteo
Velardo, Daniele
Berardinelli, Angela
author_facet Pasca, Ludovica
Gardani, Alice
Paoletti, Matteo
Velardo, Daniele
Berardinelli, Angela
author_sort Pasca, Ludovica
collection PubMed
description Duchenne muscular dystrophy (DMD) is a severe, progressive X-linked recessive disorder, caused by the absence of the dystrophin protein. A resolutive therapy for DMD is not yet available. The first approved drug for DMD patients with nonsense mutations is ataluren, approved for the treatment of children aged ≥ 2 yrs, that seems effective in slowing the disease progression. An earlier introduction of ataluren seems to give better results. We report the case of a 14-year-old DMD patient with a nonsense mutation in exon 70, still ambulant, who started taking ataluren at 12 years and remained stable for the following two years. The patient was on steroid since the age of 6, with beneficial effects. At two-years follow-up, an optimal disease evolution was observed, associated with a constant decrease of creatine kinase blood levels. Despite the late start of the treatment, ataluren seems to have significantly contributed to the stabilization of the functional status in this patient though it cannot be excluded that the result may have been influenced by the previous favorable course of the disease. However, further studies should be planned in patients with similar age treated with ataluren to better evaluate the treatment’s results compared to the natural course of the disease.
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spelling pubmed-96288012022-11-07 Good response to the late treatment with ataluren in a boy with Duchenne muscular dystrophy: could the previous mild course of the disease have affected the outcome? Pasca, Ludovica Gardani, Alice Paoletti, Matteo Velardo, Daniele Berardinelli, Angela Acta Myol Case Report Duchenne muscular dystrophy (DMD) is a severe, progressive X-linked recessive disorder, caused by the absence of the dystrophin protein. A resolutive therapy for DMD is not yet available. The first approved drug for DMD patients with nonsense mutations is ataluren, approved for the treatment of children aged ≥ 2 yrs, that seems effective in slowing the disease progression. An earlier introduction of ataluren seems to give better results. We report the case of a 14-year-old DMD patient with a nonsense mutation in exon 70, still ambulant, who started taking ataluren at 12 years and remained stable for the following two years. The patient was on steroid since the age of 6, with beneficial effects. At two-years follow-up, an optimal disease evolution was observed, associated with a constant decrease of creatine kinase blood levels. Despite the late start of the treatment, ataluren seems to have significantly contributed to the stabilization of the functional status in this patient though it cannot be excluded that the result may have been influenced by the previous favorable course of the disease. However, further studies should be planned in patients with similar age treated with ataluren to better evaluate the treatment’s results compared to the natural course of the disease. Pacini Editore Srl 2022-09-30 /pmc/articles/PMC9628801/ /pubmed/36349184 http://dx.doi.org/10.36185/2532-1900-078 Text en ©2022 Gaetano Conte Academy - Mediterranean Society of Myology, Naples, Italy https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article distributed in accordance with the CC-BY-NC-ND (Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International) license. The article can be used by giving appropriate credit and mentioning the license, but only for non-commercial purposes and only in the original version. For further information: https://creativecommons.org/licenses/by-nc-nd/4.0/deed.en
spellingShingle Case Report
Pasca, Ludovica
Gardani, Alice
Paoletti, Matteo
Velardo, Daniele
Berardinelli, Angela
Good response to the late treatment with ataluren in a boy with Duchenne muscular dystrophy: could the previous mild course of the disease have affected the outcome?
title Good response to the late treatment with ataluren in a boy with Duchenne muscular dystrophy: could the previous mild course of the disease have affected the outcome?
title_full Good response to the late treatment with ataluren in a boy with Duchenne muscular dystrophy: could the previous mild course of the disease have affected the outcome?
title_fullStr Good response to the late treatment with ataluren in a boy with Duchenne muscular dystrophy: could the previous mild course of the disease have affected the outcome?
title_full_unstemmed Good response to the late treatment with ataluren in a boy with Duchenne muscular dystrophy: could the previous mild course of the disease have affected the outcome?
title_short Good response to the late treatment with ataluren in a boy with Duchenne muscular dystrophy: could the previous mild course of the disease have affected the outcome?
title_sort good response to the late treatment with ataluren in a boy with duchenne muscular dystrophy: could the previous mild course of the disease have affected the outcome?
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9628801/
https://www.ncbi.nlm.nih.gov/pubmed/36349184
http://dx.doi.org/10.36185/2532-1900-078
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