Results 11 to 20 of about 4,206 (188)

Nusinersen Induces Disease-Severity-Specific Neurometabolic Effects in Spinal Muscular Atrophy [PDF]

Biomolecules, 2022
Intrathecal delivery of Nusinersen–an antisense oligonucleotide that promotes survival motor neuron (SMN) protein induction–is an approved therapy for spinal muscular atrophy (SMA).
Francesco Errico, Manuela Grimaldi, Valentina Bassareo   +2 more
exaly   +5 more sources

Scientific rationale for a higher dose of nusinersen

Annals of Clinical and Translational Neurology, 2022
Objective The long‐term favorable safety profile of nusinersen provides an opportunity to consider a higher dose. We report on the relationships between nusinersen cerebrospinal fluid (CSF) exposure, biomarker levels, and clinical efficacy.
Richard S. Finkel, Monique M. Ryan, Samuel Ignacio Pascual Pascual, John W. Day, Eugenio Mercuri, Darryl C. De Vivo, Richard Foster, Jacqueline Montes, Juliana Gurgel‐Giannetti, Drew MacCannell, Zdenek Berger   +10 more
doaj   +8 more sources

Experiences from treating seven adult 5q spinal muscular atrophy patients with Nusinersen [PDF]

Therapeutic Advances in Neurological Disorders, 2020
Background: The antisense oligonucleotide Nusinersen recently became the first approved drug against spinal muscular atrophy (SMA). It was approved for all ages, albeit the clinical trials were conducted exclusively on children.
Elisabeth Jochmann, Robert Steinbach, Thomas Jochmann   +2 more
exaly   +3 more sources

Long-Term Effects of Nusinersen Combined Physiotherapy in Spinal Muscular Atrophy Type 1: A Case Study

Journal of Behçet Uz Children's Hospital, 2022
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that is characterized by generalized muscle weakness. Any study does not exist showing the results of Nusinersen and physiotherapy in SMA type 1.
Güllü Aydın Yağcıoğlu, Numan Bulut, Fatma Uğur, İpek Alemdaroğlu Gürbüz, A. Ayşe Karaduman, Öznur Yılmaz   +5 more
doaj   +2 more sources

Nusinersen: the antisense oligonucleotide at the forefront of spinal muscular atrophy treatment [PDF]

RNA Biology
Spinal muscular atrophy (SMA) is the first human disease to be treated with an antisense oligonucleotide (ASO) that restores the full coding sequence of a mRNA through splicing modulation.
Natalia N. Singh, Eric W. Ottesen, Ravindra N. Singh   +2 more
doaj   +2 more sources

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
core   +8 more sources

Healthcare utilisation in children with SMA type 1 treated with nusinersen: a single centre retrospective review [PDF]

BMJ Paediatrics Open, 2019
Background Nusinersen has been used to treat spinal muscular atrophy type 1 (SMA1) in the UK since 2017. While initial trials showed neuromuscular benefit from treating SMA1, there is little information on the respiratory effects of nusinersen.
Francis J Gilchrist, William D Carroll, Tracey Willis, Martin Samuels, Imran Ali, John Alexander, Sadie Clayton, Richa Kulshrestha   +7 more
doaj   +2 more sources

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   +2 more sources

Nusinersen Treatment for Spinal Muscular Atrophy: Retrospective Multicenter Study of Pediatric and Adult Patients in Kuwait

Neurology International
Spinal muscular atrophy is a neuromuscular genetic condition associated with progressive muscle weakness and atrophy. Nusinersen is an antisense oligonucleotide therapy approved for the treatment of 5q spinal muscular atrophy in pediatric and adult ...
Asma AlTawari, Mohammad Zakaria, Walaa Kamel, Nayera Shaalan, Gamal Ahmed Ismail Elghazawi, Mohamed Esmat Anwar Ali, Dalia Salota, Amr Attia, Ehab Elsayed Ali Elanay, Osama Shalaby, Fatema Alqallaf, Vesna Mitic, Laila Bastaki   +12 more
doaj   +2 more sources

The evolving therapeutic landscape of spinal muscular atrophy - A scoping review of investigational agents, emerging delivery technologies and strategic innovations. [PDF]

Br J Clin Pharmacol
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
Belančić A, Eustaquio P, Gkrinia EMM, Stević I, Javor E, Lam YW, Janković S, Vitezić D.   +7 more
europepmc   +2 more sources