Results 61 to 70 of about 152 (86)

Pharmacokinetics of therapies approved for spinal muscular atrophy: A narrative review of current evidence

Journal of International Medical Research
Spinal muscular atrophy is a severe neuromuscular disorder caused by mutations in the survival motor neuron 1 gene, leading to progressive motor neuron degeneration.
Eda Kübra Sel, Elvira Meni Maria Gkrinia, Rossana Roncato, Dinko Vitezić, Slobodan Janković, Andrej Belančić,   +6 more
doaj   +1 more source

Onasemnogene‐abeparvovec administration to premature infants with spinal muscular atrophy

Annals of Clinical and Translational Neurology
Twin girls born at 30 weeks' gestation with spinal muscular atrophy (SMA) received onsasemnogene‐abeparvovec (OA) at 3.5 weeks of life. They had no treatment‐related adverse events, normal acquisition of motor milestones, and normal neurological ...
Stephen M. Brown, Aparna S. Ajjarapu, Divya Ramachandra, Laura Blasco‐Pérez, Mar Costa‐Roger, Eduardo F. Tizzano, Charlotte J. Sumner, Katherine D. Mathews   +7 more
doaj   +1 more source

ID182 Eficácia e efetividade do nusinersena, risdiplam e onasemnogeno abeparvoveque para o tratamento de atrofia muscular espinhal (AME) 5q tipos I e II em relação ao número de cópias do gene SMN2

Jornal de Assistência Farmacêutica e Farmacoeconomia
Introdução Atrofia muscular espinhal (AME 5q) é caracterizada pela degeneração dos neurônios motores inferiores que, consequentemente, leva à paralisia com atrofia muscular associada a mutações bialélicas do gene SMN1.
Roberto Lúcio Muniz Júnior, Álex Brunno do Nascimento Martins, Bárbara Rodrigues Alvernaz dos Santos, Ludmila Peres Gargano, Marcus Carvalho Borin, Marcus Carvalho Borin, Francisco de Assis Acurcio, Juliana Alvares-Teodoro, Augusto Afonso Guerra Júnior   +7 more
doaj   +1 more source

PE-068 Impacto econômico nas famílias de crianças com atrofia muscular espinhal tipo 1 no Brasil: um estudo transversal

Jornal de Assistência Farmacêutica e Farmacoeconomia
Introdução: A atrofia muscular espinhal (AME) é uma doença neuromuscular rara, progressiva e debilitante. Apesar dos subsídios para medicamentos, a AME tipo I pode gerar despesas catastróficas para as famílias dos pacientes afetados [1–3]. Objetivo: Este
André Soares Motta-Santos, Kenya Noronha, Carla Barros Reis, Daniela Almeida Freitas, Lélia Maria de Almeida Carvalho, Lívio Matheus Oliveira Silva, Ney Cristian Amaral Boa-Sorte, Mônica Viegas Andrade   +7 more
doaj   +1 more source

Clinical decision making around commercial use of gene and genetic therapies for spinal muscular atrophy

Neurotherapeutics
Spinal muscular atrophy is no longer a leading cause of inherited infant death in the United States. Since 2016, three genetic therapies have been approved for the treatment of spinal muscular atrophy.
Megan A. Waldrop
doaj   +1 more source

Reduction in Perioperative Risk in Patients with Spinal Muscular Atrophy Following the Release of Disease-Modifying Therapies: An Analysis of the National Surgical Quality Improvement Program Database

Children
Background/Objectives: Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease resulting in proximal muscle weakness and paralysis. SMA treatment has radically changed in the past 10 years thanks to the development of novel therapies ...
Erin Toaz, Nisha Pinto, Keith Kilner, Eric Cheon   +3 more
doaj   +1 more source

Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil

Jornal de Pediatria
Objective: Spinal Muscular Atrophy linked to chromosome 5q (SMA) is an autosomal recessive neurodegenerative disease characterized by progressive proximal muscle atrophy and weakness.
Ana Letícia Amorim de Albuquerque, Júlia Kersting Chadanowicz, Isabela Possebon Bevilacqua, Ana Lucia Portella Staub, Pablo Brea Winckler, Patricia Zambone da Silva, Simone Chaves Fagondes, Renata Salatti Ferrari, Claudia Denise de Oliveira Trojahn, Viviane Zechlinski Sacharuk, Thayne Woycinck Kowalski, Karina Carvalho Donis, Michele Michelin Becker, Jonas Alex Morales Saute   +13 more
doaj   +1 more source

Neuromuscular diseases: genomics-driven advances

Genomics & Informatics
Neuromuscular diseases (NMDs) are a group of rare disorders characterized by significant genetic and clinical complexity. Advances in genomics have revolutionized both the diagnosis and treatment of NMDs. While fewer than 30 NMDs had known genetic causes
Anna Cho
doaj   +1 more source

Swallowing and feeding after disease-modifying treatment for spinal muscular atrophy: a systematic review of assessment modalities and outcomes

Orphanet Journal of Rare Diseases
Background Feeding and swallowing deficits are reported across the spectrum of spinal muscular atrophy (SMA), with more profound symptoms associated with more severe disease.
Yasmina Martí, Ksenija Gorni, Sandhya Kumari, Anadi Mahajan, Giovanni Baranello, Liesbeth De Waele, Katlyn E. McGrattan   +6 more
doaj   +1 more source

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Hepatotoxicity following administration of onasemnogene abeparvovec (AVXS-101) for the treatment of spinal muscular atrophy

Journal of Hepatology, 2021
Hugh J Mcmillan, Francis Fonyuy Tukov, Sitra Tauscher-Wisniewski   +2 more
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