Results 51 to 60 of about 4,206 (188)
Orphanet Journal of Rare Diseases, 2023 Background As the first gene therapy for spinal muscular atrophy (SMA), nusinersen is supposed to be administrated via intrathecal injection regularly for a lifetime.
Zhen Wang +10 more
doaj +1 more source
Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen [PDF]
, 2022 Aim: To assess the evolution of bulbar function in nusinersen-treated spinal muscular atrophy type 1 (SMA1). Method: This single-centre retrospective study identified 24 patients (14 females and 10 males) with SMA1, treated with nusinersen between 2017 ...
Weststrate, Harriet +8 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane +43 more
wiley +1 more source
Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy
Orphanet Journal of Rare Diseases, 2021 Background Studies regarding the impact of (neuro)inflammation and inflammatory response following repetitive, intrathecally administered antisense oligonucleotides (ASO) in 5q-associated spinal muscular atrophy (SMA) are sparse.
Maren Freigang +12 more
doaj +1 more source
Children, 2021 The purpose of this study was to explore early changes in patient and family caregiver report of quality of life and family impact during the transitional period of nusinersen use.
Meaghann S. Weaver +4 more
doaj +1 more source
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source
The Antisense Oligonucleotide Nusinersen for Treatment of Spinal Muscular Atrophy
, 2021 Spinal muscular atrophy (SMA) is a rare, autosomal recessive neuromuscular degenerative disease characterized by loss of spinal cord motor neurons leading to progressive muscle wasting.
John W. Pruitt +17 more
core +1 more source
TDP‐43 Aggregation: The Healthy‐Toxic Balance of the Prion‐Like Domain
Advanced Science, EarlyView.TDP‐43 function relies on a delicate balance between reversible phase‐separated states and irreversible aggregation. Under physiological conditions, TDP‐43 forms dynamic droplets and oligomers that support normal cellular functions. In pathological contexts, this balance shifts toward aberrant aggregation, leading to toxic species.
Luca Zangrando +2 more
wiley +1 more source
The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy
Annals of Neurology, EarlyView.Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva +13 more
wiley +1 more source
Journal of Market Access & Health Policy, 2019 Background: Spinal muscular atrophy type 1 (SMA1) is a devastating genetic disease for which gene-replacement therapy may bring substantial survival and quality of life benefits.
Daniel C. Malone +9 more
doaj +1 more source