Results 71 to 80 of about 7,657 (243)

GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells [PDF]

, 2017
Pompe disease is a metabolic myopathy caused by deficiency of the acid α-glucosidase (GAA) enzyme and results in progressive wasting of skeletal muscle cells. The c.-32-13T>G (IVS1) GAA variant promotes exon 2 skipping during pre-mRNA splicing and is the
Aráuzo-Bravo, M. (Marcos), Bergsma, A.J. (Atze), in ‘t Groen, S.L.M. (Stijn L.M.), Pijnappel, W.W.M.P. (Pim), Ploeg, A.T. (Ans) van der, Schöler, H.R. (Hans), Van Gestel, T.J.M. (Tom J.M.), Wal, E. (Erik) van der, Zaehres, H. (Holm)   +8 more
core   +1 more source

Safety and Efficacy of Nusinersen Focusing on Renal and Hematological Parameters in Spinal Muscular Atrophy

Brain and Behavior
Spinal muscular atrophy (SMA) is a motor neuron disease caused by mutations in the SMN1 gene. Nusinersen, an antisense oligonucleotide, has been shown to improve motor function in SMA patients.
Hüseyin Bahadır Şenol, Gizem Yıldız, A. I. Polat, Adem Aydın, A. S. Hız, A. Soylu, U. Yiş   +6 more
semanticscholar   +1 more source

The evolving therapeutic landscape of spinal muscular atrophy – A scoping review of investigational agents, emerging delivery technologies and strategic innovations

British Journal of Clinical Pharmacology, EarlyView.
Spinal muscular atrophy (SMA) is a severe neuromuscular disease with emerging therapeutic complexity. This review aims to systematically map the global pipeline of investigational treatments for SMA. Using ClinicalTrials.gov and complementary international registries, we identified 21 planned or ongoing interventional trials from 2020 to 2025 targeting
Andrej Belančić, Patrick Eustaquio, Elvira Meni Maria Gkrinia, Ivana Stević, Eugen Javor, Yun Wah Lam, Slobodan Janković, Dinko Vitezić   +7 more
wiley   +1 more source

Evaluation of the Efficacy of Nusinersen Treatment in Patients with Late-onset SMA Using the Hammersmith Functional Motor Scale Expanded

Journal of Behçet Uz Children's Hospital
Objective: Spinal muscular atrophy (SMA) is a hereditary disorder with progressive muscle weakness and atrophy. Nusinersen is an antisense oligonucleotide directed against SMN2 and has been shown in studies to improve the motor skills of patients.
Yiğithan Güzin, Ayşe Özbay Yıldız, Bakiye Tunçay, Pınar Gençpınar, Figen Baydan, Nihal Olgaç Dündar   +5 more
doaj   +1 more source

Spinal Muscular Atrophy after Nusinersen Therapy: Improved Physiology in Pediatric Patients with No Significant Change in Urine, Serum, and Liquor 1H-NMR Metabolomes in Comparison to an Age-Matched, Healthy Cohort

Metabolites, 2021
Spinal muscular atrophy (SMA) is a genetically heterogeneous group of rare neuromuscular diseases and was until recently the most common genetic cause of death in children.
Leon Deutsch, Damjan Osredkar, Janez Plavec, Blaž Stres   +3 more
doaj   +1 more source

Open-label phase IV trial evaluating nusinersen after onasemnogene abeparvovec in children with spinal muscular atrophy. [PDF]

J Clin Invest
BACKGROUND Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disease caused by deletions or mutations of the survival motor neuron 1 (SMN1) gene.
Proud CM, Finkel RS, Parsons JA, Masson R, Brandsema JF, Kuntz NL, Foster R, Li W, Littauer R, Sohn J, Fradette S, Youn B, Paradis AD, RESPOND Study Group.   +13 more
europepmc   +2 more sources

Nusinersen bei spinaler Muskelatrophie [PDF]

Nervenheilkunde, 2019
ZUSAMMENFASSUNGFür die 5q-assoziierte spinale Muskelatrophie (SMA) ist mit dem Antisense-Oligonukleotid Nusinersen seit Juni 2017 in Europa die erste kausale Therapie verfügbar. Die Zulassung beruht auf Phase-III-Studien bei Kindern und umfasst altersunabhängig alle genetisch gesicherten Subtypen der SMA. Erfahrungen in der Anwendung von Nusinersen bei
Olivia Schreiber-Katz, Susanne Petri, Friederich Götz, Omar Abu-Fares, Alma Osmanovic   +4 more
openaire   +1 more source

Clinical Characterization of Patients With 5q Spinal Muscular Atrophy Types 2 and 3 in Brazil: A Cross‐Sectional Observational Study

Clinical Genetics, EarlyView.
This study describes the clinical heterogeneity of Brazilian patients with 5q spinal muscular atrophy types 2 and 3, highlighting prolonged diagnostic delays and the impact of disease duration on motor function. Early genetic diagnosis and access to multidisciplinary care are crucial to preserve functional outcomes.
Elice Carneiro Batista, Edmar Zanoteli, Henrique Andrade R. Fonseca, Graziela Jorge Polido, Jonas Alex Morales Saute, Adriana Banzzatto Ortega, Marcondes Cavalcante França Junior, Acary Souza Bulle Oliveira, Paulo Victor Sgobbi de Souza, Juliana Gurgel Giannetti, André Luiz Santos Pessoa, Alexandra Prufer de Queiroz Campos Araújo, Mário Fritsch Toros Neves, Raquel Tavares Boy da Silva, Frederico Monfardini, Gustavo Prado dos Santos, Bruna dos Santos Sampaio, Diogo Fagundes Moia, Fernando Galan Júnior, Luciana Pereira Almeida de Piano, Camila Santos Nascimento de Albuquerque, Flávia Miranda Duarte, Viviane Aparecida Rodrigues Sant’Anna, Mariane Pereira, Jomenica de Bortoli Livramento, Ronaldo Vicente Pereira Soares, Denison Alves Pedrosa, Vanessa Teich, Luiz Vicente Rizzo, Otávio Berwanger, João Brainer Clares de Andrade, Gisele Sampaio Silva   +31 more
wiley   +1 more source

Nusinersen for SMA: expanded access programme [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2018
BackgroundSpinal muscular atrophy (SMA) is a devastating motor neuron disorder causing progressive muscle weakness and respiratory insufficiency. We present the initial Australian experiences implementing the expanded access programme (EAP) to enable preapproval access to nusinersen, the first disease-modifying therapy, for SMA type 1.MethodsAn ...
Farrar, MA, Teoh, HL, Carey, KA, Cairns, A, Forbes, R, Herbert, K, Holland, S, Jones, KJ, Menezes, MP, Morrison, M, Munro, K, Villano, D, Webster, R, Woodcock, IR, Yiu, EM, Sampaio, H, Ryan, MM   +16 more
openaire   +3 more sources

Spinal muscular atrophy: Factors that modulate motor neurone vulnerability. [PDF]

, 2017
Spinal muscular atrophy (SMA), a leading genetic cause of infant death, is a neurodegenerative disease characterised by the selective loss of particular groups of motor neurones in the anterior horn of the spinal cord with concomitant muscle weakness. To
Heath, P.R., Highley, J.R., Simpson, J.E., Tu, W.Y.   +3 more
core   +1 more source