Results 41 to 50 of about 7,965 (282)

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

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   +1 more source

Nusinersen Administration in Spinal Muscular Atrophy Patients with Severe Scoliosis: Interlaminar Approaches at the Lumbar Level [PDF]

Annals of Child Neurology, 2020
Purpose Spinal muscular atrophy (SMA) is a genetic progressive neuromuscular disorder, and nusinersen has shown to improve its symptoms. Scoliosis is a frequent symptom in patients with SMA and complicates the intrathecal injection of nusinersen. The aim
Joo Young Song, Hyun Su Kim, Se-Jun Park, Jiwon Lee, Jeehun Lee   +4 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

Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen [PDF]

, 2023
Three therapeutic strategies have radically changed the therapeutic scenario for spinal muscular atrophy (SMA). However, therapeutic response differs between individuals.
Selena Trifunov, Daniel Natera‐de Benito, Laura Carrera‐García, Anna Codina, J. Expósito, C. Ortez, Julita Medina, Soraya Torres Alcala, Sara Bernal, Laura Alías, Carmen Badosa, Sol Balsells, Daniel Alcolea, A. Nascimento, C. Jiménez-Mallebrera   +14 more
openalex   +4 more sources

Evaluating the Effects of Nusinersen Treatment in Adults With Spinal Muscular Atrophy Using Axonal Excitability and MscanFit MUNE [PDF]

Muscle Nerve
ABSTRACT Introduction/Aims The biological changes in motor neurons and motor axons that correlate with the clinical benefits of nusinersen, an antisense oligonucleotide, in spinal muscular atrophy (SMA) remain poorly understood. This study aimed to investigate changes in axonal excitability and motor unit number estimation (MUNE) parameters following a
Alaamel A, Erdem N, Gencer G, Kaya H, Uysal H.   +4 more
europepmc   +2 more sources

Quality of Life in SMA Patients Under Treatment With Nusinersen [PDF]

Frontiers in Neurology, 2021
Background:Spinal Muscular Atrophy (SMA) is a severe neurodegenerative disease, characterized by progressive muscle weakness and atrophy. The approval of the antisense oligonucleotide (ASO) nusinersen now provides an effective pharmacological approach with the potential to slow down or stop disease progression with a potentially major impact on ...
Simon Witzel, Lucas Mix, Albert C. Ludolph, Albert C. Ludolph, Dorothée Lulé, Claudia D. Wurster, Zeljko Uzelac, Benedikt Winter, Heiko Graf, Sophia Platen   +9 more
openaire   +6 more sources

Ultrasound-guided nusinersen administration for spinal muscular atrophy patients with severe scoliosis: an observational study

Orphanet Journal of Rare Diseases, 2021
Background This observational study describes our experience delivering nusinersen through lumbar puncture with real-time ultrasound guidance in spinal muscular atrophy (SMA) patients with severe scoliosis.
Jiao Zhang, Xulei Cui, Si Chen, Yi Dai, Yuguang Huang, Shuyang Zhang   +5 more
doaj   +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   +4 more sources