Results 31 to 40 of about 3,107 (205)

Motor and neurocognitive profiles of children with symptomatic spinal muscular atrophy type 1 with two copies of SMN2 before and after treatment: a longitudinal observational study [PDF]

Frontiers in Neurology
IntroductionSpinal muscular atrophy (SMA) is a neurodegenerative disease caused by mutations in the survival motor neuron 1 (SMN1) gene. In clinical studies, gene replacement therapy with onasemnogene abeparvovec (formerly AVXS-101, Zolgensma®, Novartis)
Ilaria Bitetti, Maria Rosaria Manna, Roberto Stella, Antonio Varone   +3 more
doaj   +3 more sources

Onasemnogene Abeparvovec Administration via Peripherally Inserted Central Catheter: A Case Report [PDF]

Children
Onasemnogene abeparvovec (OA) is the approved intravenous gene therapy for the treatment of spinal muscular atrophy (SMA). A functional copy of the human SMN1 gene was inserted into the target motor neuron cells via a viral vector, AAV9.
Inmaculada Pitarch Castellano, Eduardo López Briz, Eugenia Ibáñez Albert, Cristina Aguado Codina, Teresa Sevilla, José L. Poveda Andrés   +5 more
doaj   +2 more sources

Treatment of spinal muscular atrophy with Onasemnogene Abeparvovec in Switzerland: a prospective observational case series study [PDF]

BMC Neurology, 2023
Background Spinal muscular atrophy (SMA) is a rare neuromuscular disorder leading to early death in the majority of affected individuals without treatment.
Georg M. Stettner, Oswald Hasselmann, Anne Tscherter, Elea Galiart, David Jacquier, Andrea Klein   +5 more
doaj   +2 more sources

Onasemnogene Abeparvovec for Treating Pre-symptomatic Spinal Muscular Atrophy: An External Assessment Group Perspective of the Partial Review of NICE Highly Specialised Technology Evaluation 15. [PDF]

Pharmacoecon Open, 2023
Chaplin M, Bresnahan R, Fleeman N, Mahon J, Houten R, Beale S, Boland A, Dundar Y, Marsden A, Munot P.   +9 more
europepmc   +3 more sources

Changes in electrophysiological findings of spinal muscular atrophy type I after the administration of nusinersen and onasemnogene abeparvovec: two case reports. [PDF]

BMC Neurol, 2023
Mizuno T, Kanouchi T, Tamura Y, Hirata K, Emoto R, Suzuki T, Kashimada K, Morio T.   +7 more
europepmc   +3 more sources

Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom. [PDF]

Lancet Reg Health Eur
Background: Real-world data on the efficacy and safety of onasemnogene abeparvovec (OA) in spinal muscular atrophy (SMA) are needed, especially to overcome uncertainties around its use in older and heavier children.
Gowda V, Atherton M, Murugan A, Servais L, Sheehan J, Standing E, Manzur A, Scoto M, Baranello G, Munot P, McCullagh G, Willis T, Tirupathi S, Horrocks I, Dhawan A, Eyre M, Vanegas M, Fernandez-Garcia MA, Wolfe A, Pinches L, Illingworth M, Main M, Abbott L, Smith H, Milton E, D'Urso S, Vijayakumar K, Marco SS, Warner S, Reading E, Douglas I, Muntoni F, Ong M, Majumdar A, Hughes I, Jungbluth H, Wraige E.   +36 more
europepmc   +3 more sources

Judicialization of Zolgensma in the Ministry of Health: costs and clinical profile of patients [PDF]

Revista de Saúde Pública
OBJECTIVE To investigate the costs and profile of patients who have filed a lawsuit against the Ministry of Health for the treatment of spinal muscular atrophy (SMA) with the onasemnogene abeparvovec (Zolgensma®).
Ana Katheryne Miranda Kretzschmar, Ellen Teixeira, Dayani Galato, Everton Nunes da Silva   +3 more
doaj   +4 more sources

Fatal outcomes following onasemnogene abeparvovec in advanced-stage spinal muscular atrophy. [PDF]

Gene Ther
Supported by encouraging trial outcomes, onasemnogene abeparvovec (OA) was authorized for spinal muscular atrophy (SMA). Nevertheless, efficacy of OA in advanced SMA patients remains underexplored.
Pongsakornkullachart P, Kulsirichawaroj P, Kongkasuwan R, Tovichien P, Jitwongwai S, Kanjanauthai S, Preeprem N, Limpaninlachat S, Sermpon N, Sanmaneechai O.   +9 more
europepmc   +2 more sources

Treating Presymptomatic Spinal Muscular Atrophy Patients with Onasemnogene Abeparvovec in Italy: The Role of the National Health System and Drug Supply. Comment on Zaidman et al. Newborn Screening for Spinal Muscular Atrophy: Variations in Practice and Early Management of Infants with Spinal Muscular Atrophy in the United States. <i>Int. J. Neonatal Screen.</i> 2024, <i>10</i>, 58. [PDF]

Int J Neonatal Screen
Masson R, Gaballo S, Caravita R, Parravicini S.   +3 more
europepmc   +3 more sources

Correction: Onasemnogene Abeparvovec for Treating Pre-symptomatic Spinal Muscular Atrophy: An External Assessment Group Perspective of the Partial Review of NICE Highly Specialised Technology Evaluation 15. [PDF]

Pharmacoecon Open, 2023
Chaplin M, Bresnahan R, Fleeman N, Mahon J, Houten R, Beale S, Boland A, Dundar Y, Marsden A, Munot P.   +9 more
europepmc   +3 more sources