Results 41 to 50 of about 1,998 (153)

Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study [PDF]

Lancet Regional Health - Europe, The
Claudia Weis, Andreas Ziegler, Albert Ludolph   +2 more
exaly   +2 more sources

Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments

Orphanet Journal of Rare Diseases, 2021
Background Spinal muscular atrophy (SMA) is a rare and devastating condition for which new disease-modifying treatments have recently been approved. Given the increasing importance of economic considerations in healthcare decision-making, this review ...
Tamara Dangouloff, Camille Botty, Charlotte Beaudart, Laurent Servais, Mickaël Hiligsmann   +4 more
doaj   +1 more source

Gene therapy-based strategies for spinal muscular atrophy—an Asia-Pacific perspective

Molecular and Cellular Pediatrics, 2023
Onasemnogene abeparvovec has been life-changing for children with spinal muscular atrophy (SMA), signifying the potential and progress occurring in gene- and cell-based therapies for rare genetic diseases.
Michelle A. Farrar, Loudella Calotes-Castillo, Ranil De Silva, Peter Barclay, Lani Attwood, Julie Cini, Monica Ferrie, Didu S. Kariyawasam   +7 more
doaj   +1 more source

Onasemnogene abeparvovec for spinal muscular atrophy. [PDF]

Aust Prescr, 2022
europepmc   +2 more sources

Safety and tolerability of onasemnogene abeparvovec for patients with spinal muscular atrophy weighing ≤17 kg and ≤24 months old from OFELIA, a phase 4, open-label, multicenter, non-randomised, interventional study. [PDF]

Lancet Reg Health Am
Background OFELIA aimed to evaluate outcomes related to safety and motor milestones following administration of onasemnogene abeparvovec, a one-time gene replacement therapy, for patients with spinal muscular atrophy (SMA) from Latin America.
Saute JA, Muntadas J, Gurgel-Giannetti J, Monges S, Aliberti P, Mendonça RH, Alecu I, Ritter S, Martins de Lana J, Mumneh N, Zanoteli E, OFELIA Study Group.   +11 more
europepmc   +3 more sources

Case report: A case of spinal muscular atrophy in a preterm infant: risks and benefits of treatment

Frontiers in Neurology, 2023
Spinal muscular atrophy (SMA) is a neuromuscular genetic disorder caused by the loss of lower motor neurons leading to progressive muscle weakness and atrophy.
Elisa Nigro, Eyal Grunebaum, Binita Kamath, Christoph Licht, Caroline Malcolmson, Aamir Jeewa, Craig Campbell, Hugh McMillan, Pranesh Chakraborty, Mark Tarnopolsky, Hernan Gonorazky   +10 more
doaj   +1 more source

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU) : an open-label, single-arm, multicentre, phase 3 trial

, 2021
Background Spinal muscular atrophy is a rare, autosomal recessive, neuromuscular disease caused by biallelic loss of the survival motor neuron 1 (SMN1) gene, resulting in motor neuron dysfunction.
Mendonca, N, Straub, V, Chand, D, Boespflug-Tanguy, O, Lavrov, A, Masson, R, Vanlander, ArnaudGE35UZGent0020013726078020010950250000-0002-9520-556400FCD042-F0EE-11E1-A9DE-61C894A0A6B4, Muntoni, F, Mercuri, E, Ouyang, H, Deconinck, NicolasUZGent9748947528672c2f287f-38e0-11eb-9f20-e6a3a63a89a2, Baranello, G, Servais, L, Bruno, C, Corti, S, Daron, A, study group, STR1VE-EU, Tauscher-Wisniewski, S   +17 more
core   +3 more sources

Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study

Neurology and Therapy, 2023
Introduction Risdiplam is a survival of motor neuron 2 (SMN2) splicing modifier for the treatment of patients with spinal muscular atrophy (SMA). The JEWELFISH study (NCT03032172) was designed to assess the safety, tolerability, pharmacokinetics (PK ...
Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera-Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Francis Warren, Renata S. Scalco, Kathryn R. Wagner, Francesco Muntoni, the JEWELFISH Study Group   +16 more
doaj   +1 more source

Switching disease‐modifying therapies in patients with spinal muscular atrophy: A systematic review on effectiveness outcomes

British Journal of Clinical Pharmacology, EarlyView.
With multiple disease‐modifying therapies now available, treatment switching has become an important clinical consideration in the management of spinal muscular atrophy (SMA). While some switches are prompted by suboptimal clinical response, more commonly they are driven by treatment burden, convenience, or adverse events.
Andrej Belančić, Elvira Meni Maria Gkrinia, Patrick Eustaquio, Andrea Katrin Faour, Dinko Vitezić   +4 more
wiley   +1 more source

Diverging Safety Signals: A Trend Analysis of Suspected Adverse Drug Reactions Reporting for Spinal Muscular Atrophy Therapies in the European Union

Neurology International
Background/Objectives: The approval of disease-modifying therapies has significantly improved outcomes for patients with spinal muscular atrophy (SMA), yet their long-term safety profiles remain under continuous evaluation.
Andrej Belančić, Petar Mas, Ivana Stević, Dinko Vitezić, Slobodan Janković   +4 more
doaj   +1 more source