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 +2 more
exaly +8 more sources
Experiences from treating seven adult 5q spinal muscular atrophy patients with Nusinersen [PDF]
Therapeutic Advances in Neurological Disorders, 2020 Background: The antisense oligonucleotide Nusinersen recently became the first approved drug against spinal muscular atrophy (SMA). It was approved for all ages, albeit the clinical trials were conducted exclusively on children.
Elisabeth Jochmann +2 more
exaly +4 more sources
Neuronal Pentraxin 2 as a Potential Biomarker for Nusinersen Therapy Response in Adults with Spinal Muscular Atrophy: A Pilot Study [PDF]
BiomedicinesBackground: The treatment landscape for spinal muscular atrophy (SMA) has changed significantly with the approval of gene-based therapies such as nusinersen for adults with SMA (pwSMA).
Svenja Neuhoff +7 more
doaj +3 more sources
Economic evaluations of disease-modifying therapies for spinal muscular atrophy: a systematic literature review. [PDF]
Orphanet J Rare DisBackgroundSpinal muscular atrophy (SMA) is a rare, life-limiting neuromuscular disorder characterised by progressive motor neuron degeneration. The recent emergence of disease-modifying therapies (DMTs), nusinersen, onasemnogene abeparvovec, and ...
Yousefi M +9 more
europepmc +3 more sources
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy [PDF]
New England Journal of Medicine, 2018 Eugenio Mercuri +2 more
exaly +2 more sources
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 +10 more
doaj +1 more source
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 +8 more
doaj +1 more source
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 +5 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 +7 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 +4 more
doaj +1 more source