Results 41 to 50 of about 2,067 (154)

Onasemnogene abeparvovec for spinal muscular atrophy. [PDF]

Aust Prescr, 2022
europepmc   +2 more sources

Trach and treat: Safety and motor outcomes following onasemnogene abeparvovec in patients with spinal muscular atrophy and tracheostomies in the RESTORE registry. [PDF]

J Neuromuscul Dis
We evaluated the safety and effectiveness of onasemnogene abeparvovec (OA) for 34 patients with spinal muscular atrophy (SMA) and tracheostomies enrolled in the RESTORE registry. Most patients (76.5%) received other SMA treatments before and/or after OA.
Erbaş Y, Servais L, Shieh PB, Goedeker NL, Waldrop MA, Bo R, Raju D, Benguerba K, Reyna SP, Wolff D, Finkel RS.   +10 more
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   +2 more sources

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 Weiss, Andreas Ziegler, Heymut Omran   +2 more
exaly   +2 more sources

Onasemnogene abeparvovec preserves bulbar function in infants with presymptomatic spinal muscular atrophy: a post-hoc analysis of the SPR1NT trial [PDF]

, 2023
Bulbar function in spinal muscular atrophy has been defined as the ability to meet nutritional needs by mouth while maintaining airway protection and communicate verbally. The effects of disease-modifying treatment on bulbar function are not clear.
McGrattan, KE, Baranello, G, Young, SD, Shell, RD, Lavrov, A, LaMarca, N, Hurst-Davis, R, O'Brien, E, Reyna, SP, Darras, BT, Wallach, S   +10 more
core   +1 more source

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

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

Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo, Claudia Dosi, Stefano Parravicini, Riccardo Zanin, Marta Cheli, Eleonora Giacopuzzi Grigoli, Amalia Canciello, Francesca Andreetta, Riccardo Masson, Silvia Bonanno, Stefania Marcuzzo, Lorenzo Maggi   +11 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

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