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. 2024 Jun;82(6):1-10.
doi: 10.1055/s-0043-1777755. Epub 2024 Feb 7.

Gene-based therapies for neuromuscular disorders

Edmar Zanoteli  1 , Marcondes Cavalcante França Jr  2 , Wilson Marques Jr  3
Affiliations

Gene-based therapies for neuromuscular disorders

Edmar Zanoteli et al. Arq Neuropsiquiatr. 2024 Jun.

Abstract
in English, Portuguese

Neuromuscular diseases (NMD) include a broad group of medical conditions with both acquired and genetic causes. In recent years, important advances have been made in the treatment of genetically caused NMD, and most of these advances are due to the implementation of therapies aimed at gene regulation. Among these therapies, gene replacement, small interfering RNA (siRNA), and antisense antinucleotides are the most promising approaches. More importantly, some of these therapies have already gained regulatory approval or are in the final stages of approval. The review focuses on motor neuron diseases, neuropathies, and Duchenne muscular dystrophy, summarizing the most recent developments in gene-based therapies for these conditions.

Doenças neuromusculares (DNM) compõem um grupo amplo de doenças de causa tanto adquiridas quanto genéticas. Nos últimos anos, importantes avanços ocorreram quanto ao tratamento das DNM de causa genética e grande parte desses avanços se deve à implementação de terapias voltadas para a modificação gênica. Dentre essas terapias, destacam-se as terapias de reposição gênica, uso de RNA de interferência, uso de antinucleotídeos antisense, entre outras. E, mais importante, algumas dessas terapias já se tornaram realidade na prática médica e já foram aprovadas, ou estão a poucos passos da aprovação, por órgãos governamentais regulatórios. Esta revisão aborda aspectos mais recentes quanto ao uso das terapias genéticas avançadas para algumas das formas mais comuns de DNM, em especial para doenças do neurônio motor (esclerose lateral amiotrófica e atrofia muscular espinhal), neuropatias e distrofia muscular de Duchenne.

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Conflict of interest statement

EZ: Consultant advisory, talks, and principal investigator for Biogen, Novartis, and Roche. MCFJr: Consultant advisory, talks, and principal investigator for Novartis, Sanofi, and PTC. WMJr: Consultant advisory, talks, and principal investigator for PTC.

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