Ethical Challenges Confronted When Providing Nusinersen Treatment for Spinal Muscular Atrophy
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DOI: 10.1001/jamapediatrics.2017.4409
Abstract: The US Food and Drug Administration’s December 2016 approval of nusinersen for the treatment of patients with all subtypes of spinal muscular atrophy ushered in a new era for patients with spinal muscular atrophy, their… read more here.
Keywords: spinal muscular; nusinersen treatment; ethical challenges; muscular atrophy ... See more keywords
Increased systemic HSP70B levels in spinal muscular atrophy infants
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DOI: 10.1002/acn3.51377
Abstract: Despite newly available treatments for spinal muscular atrophy (SMA), novel circulating biomarkers are still critically necessary to track SMA progression and therapeutic response. To identify potential biomarkers, we performed whole‐blood RNA sequencing analysis in SMA… read more here.
Keywords: hsp70b; spinal muscular; hsp70b levels; sma ... See more keywords
Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy
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DOI: 10.1002/acn3.51519
Abstract: To provide a greater understanding of the tolerability, safety and clinical outcomes of onasemnogene abeparvovec in real‐world practice, in a broad population of infants with spinal muscular atrophy (SMA). read more here.
Keywords: safety; muscular atrophy; abeparvovec spinal; onasemnogene abeparvovec ... See more keywords
Mexiletine in spinal and bulbar muscular atrophy: a randomized controlled trial
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DOI: 10.1002/acn3.51667
Abstract: Patients with spinal and bulbar muscular atrophy (SBMA) often experience muscular weakness under cold exposure. read more here.
Keywords: bulbar muscular; muscular atrophy; mexiletine spinal; spinal bulbar ... See more keywords
Early spinal muscular atrophy treatment following newborn screening: A 20‐month review of the first Italian regional experience
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DOI: 10.1002/acn3.52018
Abstract: Mandatory newborn screening (NBS) for spinal muscular atrophy (SMA) was implemented for the first time in Italy at the end of 2021, allowing the identification and treatment of patients at an asymptomatic stage. read more here.
Keywords: newborn screening; spinal muscular; treatment; muscular atrophy ... See more keywords
Preemptive dual therapy for children at risk for infantile‐onset spinal muscular atrophy
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DOI: 10.1002/acn3.52093
Abstract: Compare efficacy of gene therapy alone (monotherapy) or in combination with an SMN2 augmentation agent (dual therapy) for treatment of children at risk for spinal muscular atrophy type 1. read more here.
Keywords: spinal muscular; therapy; muscular atrophy; dual therapy ... See more keywords
Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review.
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DOI: 10.1002/acn3.70274
Abstract: OBJECTIVE Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and… read more here.
Keywords: spinal muscular; nusinersen risdiplam; review; muscular atrophy ... See more keywords
The 4‐Copy Conundrum in the Treatment of Infants with Spinal Muscular Atrophy
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DOI: 10.1002/ana.26358
Abstract: The 4-Copy Conundrum in the Treatment of Infants with Spinal Muscular Atrophy Stella Deng, MD, Bo Hoon Lee, MD, Emma Ciafaloni, MD, and Samuel J. Mackenzie, MD, PhD 1,2 Yeo et al. recently reported on… read more here.
Keywords: spinal muscular; treatment infants; muscular atrophy; copy ... See more keywords
Comparison of neurofilament light and heavy chain in spinal muscular atrophy and amyotrophic lateral sclerosis: A pilot study
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DOI: 10.1002/brb3.2997
Abstract: Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) were two major motor neuron diseases with similar symptoms and poor outcomes. This study aimed to identify potential biomarkers in disease monitoring and differential diagnosis of… read more here.
Keywords: spinal muscular; lateral sclerosis; muscular atrophy; amyotrophic lateral ... See more keywords
Analysis of the efficacy and adverse effects of nusinersen in the treatment of children with spinal muscular atrophy in China
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DOI: 10.1002/brb3.3630
Abstract: This study was based on a retrospective clinical observational cohort study of a two‐center application of nusinersen in China to evaluate the clinical efficacy and adverse effects of nusinersen in the treatment of SMA (spinal… read more here.
Keywords: spinal muscular; nusinersen treatment; adverse effects; muscular atrophy ... See more keywords
Long‐Term Effects of Nusinersen Dosing Frequency on Adult Patients With Spinal Muscular Atrophy: Efficacy of a 6‐Month Dosing Interval
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DOI: 10.1002/brb3.70528
Abstract: Spinal muscular atrophy (SMA) is a genetic disease caused by the degeneration of spinal motor neurons due to a deficiency in survival motor neuron protein (SMN) protein, leading to progressive muscle atrophy and weakness. nusinersen,… read more here.
Keywords: spinal muscular; adult patients; long term; muscular atrophy ... See more keywords