Results 221 to 230 of about 6,546 (245)
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Nusinersen a spinalis izomatrophia kezelésében
Ideggyógyászati szemle, 2018Until recently, the diagnosis of spinal muscular atrophy (SMA) has been associated with severe life-long motor disability in adults and with early death in infants. The new experimental therapeutic approaches of the last few years have become more and more promising, while nusinersen was approved for the treatment of SMA in December 2016 in the USA ...
Zsuzsanna Kiss +2 more
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Nusinersen: A Treatment for Spinal Muscular Atrophy
Annals of Pharmacotherapy, 2018Objective: To review the efficacy and safety of nusinersen (Spinraza) in the treatment of spinal muscular atrophy (SMA). Data Sources: An English-language literature search of PubMed and MEDLINE (1946 to June 2018) was performed using the terms nusinersen, ISIS-SMN (Rx), and spinal muscular atrophy.
Debra L Stevens +3 more
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Nusinersen for spinal muscular atrophy
Neurology, 2019Spinal muscular atrophy (SMA) is a monogenic anterior horn disease caused by mutations in the SMN1 gene leading to lack of SMN protein necessary for motor neuron functioning and survival. Phenotypic severity is modulated primarily by the amount of SMN protein produced by the paralogue SMN2 gene that differs from SMN1 by a critical single-nucleotide ...
Barry S. Russman, Emma Ciafaloni
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Nusinersen: First Global Approval
Drugs, 2017Spinal muscular atrophy (SMA) is a rare autosomal recessive disorder characterized by muscle atrophy and weakness resulting from motor neuron degeneration in the spinal cord and brainstem. It is most commonly caused by insufficient levels of survival motor neuron (SMN) protein (which is critical for motor neuron maintenance) secondary to deletions or ...
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Nusinersen in the Treatment of Spinal Muscular Atrophy
2018Spinal muscular atrophy (SMA) is one of the most common genetic causes of infantile death arising due to mutations in the SMN1 gene and the subsequent loss of motor neurons. With the discovery of the intronic splicing silencer N1 (ISS-N1) as a potential target for antisense therapy, several antisense oligonucleotides (ASOs) are being developed to ...
Kara Goodkey +4 more
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Intrathecal delivery of nusinersen in individuals with complicated spines
Muscle & Nerve, 2020AbstractBackgroundThe treatment of spinal muscular atrophy (SMA) with nusinersen requires intrathecal medication administration, which can be challenging in individuals with complicated spines. This retrospective case series reviews the nusinersen treatment experience at one academic medical center with children and adults with SMA and complicated ...
Thomas G. West +3 more
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Treating adults with spinal muscular atrophy with nusinersen
Journal of Neurology, Neurosurgery & Psychiatry, 2020Nusinersen was the first drug approved to treat people with spinal muscular atrophy (SMA), based on clinical data obtained from the initial trials undertaken in infants and children.1 2 With limited evidence of the safety and efficacy of nusinersen across the spectrum of ages and severities in SMA, adult patients are now confronting uncertain ...
Michelle A Farrar, Matthew C Kiernan
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Nusinersen for the treatment of spinal muscular atrophy
Expert Review of Neurotherapeutics, 2017Spinal muscular atrophy (SMA) is an autosomal recessive degenerative neuromuscular disorder characterized by loss of spinal motor neurons leading to muscle weakness. This review article focuses on a novel antisense oligonucleotide treatment, first ever approved for SMA (nusinersen, SpinrazaTM) and describes the exciting journey from early ASO clinical ...
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Effect of Discontinuation of Nusinersen Treatment in Long-Standing SMA3
Journal of Neuromuscular Diseases, 2021Background: Spinal muscular atrophy is an autosomal recessive neuromuscular disease leading to ongoing degeneration of anterior horn cells in the spinal cord. Nusinersen is the first approved treatment for the condition, an intrathecally administered antisense oligonucleotide. It modulates pre-RNA splicing of the SMN2 gene and increases full-length SMN
Maggie C. Walter +3 more
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Ultrasound-guided cervical puncture for nusinersen administration in adolescents
Pediatric Radiology, 2018Spinal muscular atrophy (SMA) is an autosomal-recessive disease affecting motor neurons and is the most common genetic cause of death in infants. Intrathecal nusinersen is the only therapy approved by the U.S. Food and Drug Administration for SMA.
Timothy Lotze +6 more
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