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Novas abordagens terapêuticas da atrofia muscular espinhal tipo I
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A Atrofia Muscular Espinhal (AME) é uma doença autossómica recessiva, causada pela deleção homozigótica do gene 1 de sobrevivência do neurónio motor (survival of motor neuron 1, SMN1). É caracterizada clinicamente pela perda de função progressiva e irreversível dos neurónios motores, com consequente perda da função muscular. A AME tipo 1, a forma de apresentação mais comum e a segunda forma mais grave da doença, surge antes dos 6 meses de idade e antes da existência das novas abordagens terapêuticas os doentes apresentavam um declínio rápido e progressivo da função motora, culminando em morte ou necessidade de ventilação permanente antes dos 2 anos de idade. Atualmente encontram-se disponíveis as seguintes opções terapêuticas: nusinersen, onasemnogene aberparvovec e ridisplam. Pretende-se rever a literatura publicada acerca do nusinersen (Spinraza®), onasemnogene abeparvovec (Zolgensma®) e risdiplam (Evrysdi®) relativamente à eficácia, segurança, bem como o respetivo efeito na progressão da AME tipo 1. Neste contexto, irá proceder-se à pesquisa na base de dados PubMed por artigos científicos publicados acerca da AME e ensaios clínicos sobre os respetivos tratamentos supra-mencionados.
Spinal Muscular Atrophy (SMA) describes an autosomal recessive disorder that occurs due to homozygous deletion in the survival of the motor neuron 1 gene (SMN1). The disorder is clinically characterized by irreversible and progressive neuronal degeneration, causing potential progressive muscle atrophy and weakness. The most common yet second most serious form of the disease, SMA type 1, appears before the 6-month age. Before the new approaches take place in therapeutic, the infants presented a rapid and progressive loss of motor function, ending up being fatal in some cases or requiring permanent ventilation before the 2nd year of life. Currently, the therapeutic options of nusinersen, onasemnogene aberparvovec, and ridisplam are available. It is the intention of this work to review publicly available literature related to nusinersen (Spinraza®), onasemnogene abeparvovec (Zolgensma®), and risdiplam (Evrysdi®). It aims to explore the effects of these methods in terms of efficiency, effectiveness, safety, and the progression proved to treat SMA type 1. The revision will be made through the PubMed database, specifically from scientific articles published on the SMA topic and clinical trials of the supra mentioned treatments.
Spinal Muscular Atrophy (SMA) describes an autosomal recessive disorder that occurs due to homozygous deletion in the survival of the motor neuron 1 gene (SMN1). The disorder is clinically characterized by irreversible and progressive neuronal degeneration, causing potential progressive muscle atrophy and weakness. The most common yet second most serious form of the disease, SMA type 1, appears before the 6-month age. Before the new approaches take place in therapeutic, the infants presented a rapid and progressive loss of motor function, ending up being fatal in some cases or requiring permanent ventilation before the 2nd year of life. Currently, the therapeutic options of nusinersen, onasemnogene aberparvovec, and ridisplam are available. It is the intention of this work to review publicly available literature related to nusinersen (Spinraza®), onasemnogene abeparvovec (Zolgensma®), and risdiplam (Evrysdi®). It aims to explore the effects of these methods in terms of efficiency, effectiveness, safety, and the progression proved to treat SMA type 1. The revision will be made through the PubMed database, specifically from scientific articles published on the SMA topic and clinical trials of the supra mentioned treatments.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2022
Palavras-chave
Nusinersen Spinraza Onasemnogene Abeparvovec Zolgensma Risdiplam Evrysd Spinal muscular atrophy Treatment