Assessment of Bulbar Function in Adult Patients with 5q-SMA Type 2 and 3 under Treatment with Nusinersen [PDF]
Brain Sciences, 2021 The antisense oligonucleotide nusinersen has been shown to improve trunk and limb motor function in patients with spinal muscular atrophy (SMA). Bulbar dysfunction, which is regularly present in SMA, is not captured by standard motor scores, and ...
Svenja Brakemeier +7 more
doaj +2 more sources
Reply to the Comment by Zhang et al [PDF]
Eur J NeurolEuropean Journal of Neurology, Volume 33, Issue 1, January 2026.
Bogdan Bjelica
wiley +2 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 ...
Auguste, Peter +9 more
core +2 more sources
Successful pregnancy of an SMA type 3 sitter on Nusinersen therapy - a case report [PDF]
BMC NeurologyBackground Due to improved treatment options, more SMA patients reach childbearing age. Currently, limited data on pregnant SMA patients is available, especially in relation to disease-modifying therapies (DMT).
Miriam Hiebeler +2 more
doaj +2 more sources
Canadian Journal of Health Technologies, 2022 CADTH recommends that Spinraza should not be reimbursed by public drug plans for the treatment of patients with type II and type III 5q spinal muscular atrophy (SMA) regardless of ambulatory status if initiated in patients older than 18 years of age. No randomized clinical trials evaluating the efficacy or safety of Spinraza in treatment ...
CADTH
openaire +3 more sources
Moving Beyond Population‐Level Analyses to Characterize Individual Heterogeneity in CMAP Responses Would Enhance the Assessment of Its Clinical Utility [PDF]
Eur J NeurolEuropean Journal of Neurology, Volume 33, Issue 1, January 2026.
Yujie Zhang, Jia Hu, Yuting Pu, Xue Bai
wiley +2 more sources
Administration practices of and adherence to nusinersen in children with spinal muscular atrophy: a multicenter disease registry study in China [PDF]
BMC PediatricsBackground 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 +20 more
doaj +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
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