Results 1 to 10 of about 4,580 (188)

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

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   +4 more sources

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, Carmen Marino, Manuela Grimaldi, Tommaso Nuzzo, Valentina Bassareo, Valeria Valsecchi, Chiara Panicucci, Elia Di Schiavi, Tommaso Mazza, Claudio Bruno, Adele D’Amico, Manolo Carta, Anna Maria D’Ursi, Enrico Bertini, Livio Pellizzoni, Alessandro Usiello   +15 more
doaj   +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

Development and validation of an HILIC/MS/MS method for determination of nusinersen in rabbit plasma

Heliyon
A hydrophilic interaction liquid chromatography tandem mass spectrometry (HILIC/MS/MS) method was developed and validated for the quantitative analysis of the fully phosphorothioate modified oligonucleotide nusinersen.
Xiao Zhang, Chunjie Sha, Wei Zhang, Fengjuan Zhao, Mingli Zhu, Guangyi Leng, Wanhui Liu   +6 more
exaly   +3 more sources

History of development of the life-saving drug “Nusinersen” in spinal muscular atrophy

Frontiers in Cellular Neuroscience, 2022
Spinal muscular atrophy (SMA) is an autosomal recessive disorder with an incidence of 1/6,000–1/10,000 and is the leading fatal disease among infants. Previously, there was no effective treatment for SMA.
Jiaying Qiu, Jiaying Qiu, Liucheng Wu, Ruobing Qu, Tao Jiang, Jialin Bai, Lei Sheng, Pengchao Feng, Junjie Sun   +8 more
doaj   +1 more source

Do we always need to treat patients with spinal muscular atrophy? A personal view and experience

Orphanet Journal of Rare Diseases, 2021
Background We report the clinical outcomes observed in our patients with SMA type 1 or 2 receiving nusinersen, and we comment on the ethical implications of this treatment, in line with our results and those reported by Audic et al.
Caterina Agosto, Eleonora Salamon, Antuan Divisic, Francesca Benedetti, Luca Giacomelli, Aashni Shah, Giorgio Perilongo, Franca Benini   +7 more
doaj   +1 more source

An updated cost-utility model for onasemnogene abeparvovec (Zolgensma®) in spinal muscular atrophy type 1 patients and comparison with evaluation by the Institute for Clinical and Effectiveness Review (ICER)

Journal of Market Access & Health Policy, 2021
Background: Recent cost-utility analysis (CUA) models for onasemnogene abeparvovec (Zolgensma®, formerly AVXS-101) in spinal muscular atrophy type 1 (SMA1) differ on key assumptions and results.
Rebecca Dean, Ivar Jensen, Phil Cyr, Beckley Miller, Benit Maru, Douglas M. Sproule, Douglas E. Feltner, Thomas Wiesner, Daniel C. Malone, Matthias Bischof, Walter Toro, Omar Dabbous   +11 more
doaj   +1 more source

Scoliosis Orthopedic Surgery Combined With Nusinersen Intrathecal Injection Significantly Improved the Outcome of Spinal Muscular Atrophy Patient: A Case Report

Frontiers in Neurology, 2022
BackgroundSpinal muscular atrophy (SMA) is an autosomal recessive disorder caused by pathogenic variation of the survival motor neuron (SMN) 1 gene. Symptoms of SMA include progressive limb muscle weakness, atrophy, and severe scoliosis. Nusinersen is an
Beiyu Xu, Cuijie Wei, Xiao Hu, Wenzhu Li, Zhen Huang, Chengli Que, Jianxing Qiu, Chunde Li, Hui Xiong   +8 more
doaj   +1 more source

Improvement in Fine Manual Dexterity in Children with Spinal Muscular Atrophy Type 2 after Nusinersen Injection: A Case Series

Children, 2021
Although nusinersen has been demonstrated to improve motor function in patients with spinal muscular atrophy (SMA), no studies have investigated its effect on fine manual dexterity.
Minsu Gu, Hyun-Ho Kong
doaj   +1 more source