Results 11 to 20 of about 152 (86)

Interim Analysis of Treatment Outcomes of Young Children with 5q Spinal Muscular Atrophy on Gene Replacement Therapy with Onasemnogene Abeparvovec. Clinical Observations

Вопросы современной педиатрии, 2023
Background. Onasemnogene abeparvovec is the first gene replacement therapy medication based on the adeno-associated viral vector (AAV9). One injection to a patient with 5q spinal muscular atrophy (SMA) leads to replacement of the missing or defective ...
Anna A. Kokorina, Sergei S. Nikitin
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Gene therapy for spinal muscular atrophy is considerably effective when administered as early as possible after birth

Molecular Genetics and Metabolism Reports, 2023
Introduction: Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by muscle atrophy and progressive muscle weakness. Insurance-approved treatments in Japan include antisense oligonucleotide therapy, gene therapy, and small molecule ...
Takaaki Sawada, Jun Kido, Yukako Yae, Kotaro Yuge, Keiko Nomura, Kentaro Okada, Natsumi Fujiyama, Shiro Ozasa, Kimitoshi Nakamura   +8 more
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Spinal muscular atrophy - onasemnogene abeparvovec and other therapeutic options [PDF]

Farmacja Polska, 2020
Spinal muscular atrophy (SMA) is a neuromuscular disorder that results in the loss of motor neurons. SMA is caused by mutations in the SMN1 gene, leading to the decreased synthesis of the SMN protein, necessary for motor neuron survival. In the past, SMA
Aleksandra Alicja Majchrzak-Celińska, Anna Warych, Mikołaj Szoszkiewicz   +2 more
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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
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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
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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
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Comprehensive analysis of adverse events associated with onasemnogene abeparvovec (Zolgensma) in spinal muscular atrophy patients: insights from FAERS database

Frontiers in Pharmacology
Onasemnogene Abeparvovec (Zolgensma) is a gene therapy for the treatment of Spinal Muscular Atrophy (SMA) with improved motor neuron function and the potential for a singular treatment.
Wenwen Zhang, Yizhen Yin, Dan Yang, Mengyuan Liu, Caixia Ye, Ruiling Yan, Ruiman Li   +6 more
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Paradoxical increase of neurofilaments in SMA patients treated with onasemnogene abeparvovec-xioi

Frontiers in Neurology, 2023
Background/ObjectiveNeurofilament light chain (NfL) has been proposed as a biomarker reflecting disease severity and therapy response in children with spinal muscular atrophy type 1 and 2 (SMA1 and 2). The objective of this study was to examine how serum
Marina Flotats-Bastardas, Lisa Bitzan, Charlotte Grell, Kyriakos Martakis, Kyriakos Martakis, Benedikt Winter, Michael Zemlin, Claudia D. Wurster, Zeljko Uzelac, Claudia Weiß, Andreas Hahn   +10 more
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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
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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
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