Results 11 to 20 of about 7,657 (243)

Real-world analysis of the efficacy and safety of nusinersen in pediatric patients with spinal muscular atrophy

Orphanet Journal of Rare Diseases
Background Spinal muscular atrophy (SMA) is a rare neurodegenerative disease that significantly affects multiple systems in children. Nusinersen, the first approved treatment for SMA, enhances SMN protein production by targeting the RNA splicing site of ...
Wenjing Li, Qin Zhang, Hongjun Miao, Jin Xu   +3 more
doaj   +2 more sources

Administration practices of and adherence to nusinersen in children with spinal muscular atrophy: a multicenter disease registry study in China

BMC Pediatrics
Background Nusinersen was the first approved disease modifying therapy (DMT) for spinal muscular atrophy (SMA). Intrathecal administration of nusinersen enables drug delivery directly to the central nervous system, where the motor neurons are located ...
Jing Peng, Xiaoli Yao, Rong Luo, Xiuxia Wang, Liwen Wu, Jianmin Zhong, Ruifeng Jin, Xinguo Lu, Jianmin Liang, Siqi Hong, Lin Yang, Xiaoli Zhang, Shanshan Mao, Zhe Tao, Jun Hu, Dan Sun, Hua Wang, Li Zhang, Yanyan Xia, Ken Chen, Yi Wang   +20 more
doaj   +2 more sources

Electrophysiological Changes in Pediatric Spinal Muscular Atrophy: Results From an Observational Study. [PDF]

Muscle Nerve
ABSTRACT Introduction/Aims Previous studies of children with spinal muscular atrophy (SMA) have focused on the ulnar and median nerves, while lower‐limb and proximal motor nerves remain insufficiently characterized. This study aimed to evaluate compound muscle action potential (CMAP) amplitudes in upper‐ and lower‐limb motor nerves in children with SMA
Sun R, Wang J, Han J, Jiang J, Wu J, Chen X, Deng X, Cai C, Sun D.   +8 more
europepmc   +2 more sources

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

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

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

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

Compound Muscle Action Potential (CMAP) Amplitude Trajectories and Pattern in Adults with 5q-Spinal Muscular Atrophy Receiving Nusinersen Therapy: A Multicenter, Binational Observational Study. [PDF]

Eur J Neurol
This study aimed to evaluate changes in compound muscle action potential (CMAP) amplitude in adults with spinal muscular atrophy (SMA) undergoing nusinersen treatment and its association with motor function improvements.
Bjelica B, Wohnrade C, Osmanovic A, Schreiber-Katz O, Koerner S, Kollewe K, Haeckl S, Freigang M, Cordts I, Becker B, Vogt C, Muhandes MT, Günther R, Deschauer M, Koch JC, Tuerk M, Regensburger M, Neuwirth C, Petri S.   +18 more
europepmc   +2 more sources

Current evidence for treatment with nusinersen for spinal muscular atrophy : a systematic review [PDF]

, 2019
Recent discovery of nusinersen, an antisense oligonucleotide drug, has provided encouragement for improving treatment of spinal muscular atrophy. No therapeutic options currently exist for this autosomal recessive motor neuron disorder.
Meylemans, Antoon, De Bleecker, Jan
core   +1 more source

Treatment with nusinersen in a girl with spinal muscular atrophy type 1 - Case report

Zdravniški Vestnik, 2020
We report the case of a girl with spinal muscular atrophy (SMA) type 1, who is the first patient with SMA in Slovenia treated with nusinersen, the first disease modifying therapy available for these patients.
Tanja Loboda, Tita Butenko, Tanja Golli, Damjan Osredkar   +3 more
doaj   +1 more source