Paradoxical increase of neurofilaments in SMA patients treated with onasemnogene abeparvovec-xioi [PDF]
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 +10 more
doaj +2 more sources
Onasemnogene Abeparvovec Administration via Peripherally Inserted Central Catheter: A Case Report [PDF]
ChildrenOnasemnogene 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 +5 more
doaj +2 more sources
Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial [PDF]
, 2022 Most children with biallelic SMN1 deletions and three SMN2 copies develop spinal muscular atrophy (SMA) type 2. SPR1NT ( NCT03505099 ), a Phase III, multicenter, single-arm trial, investigated the efficacy and safety of onasemnogene abeparvovec for ...
Kwon, Jennifer M +35 more
core +7 more sources
Summary of Research: Risdiplam Treatment Following Onasemnogene Abeparvovec in Individuals with Spinal Muscular Atrophy: A Multicenter Case Series. [PDF]
Adv TherThis Summary of Research summarizes a previously published original article, Risdiplam treatment following onasemnogene abeparvovec in individuals with spinal muscular atrophy: a multicenter case series.
Svoboda MD +7 more
europepmc +2 more sources
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial [PDF]
, 2022 SPR1NT ( NCT03505099 ) was a Phase III, multicenter, single-arm study to investigate the efficacy and safety of onasemnogene abeparvovec for presymptomatic children with biallelic SMN1 mutations treated at ≤6 weeks of life.
Tauscher-Wisniewski, Sitra +19 more
core +7 more sources
Molecular Therapy: Methods & Clinical Development, 2021 This longitudinal cohort study aimed to determine whether circulating neurofilaments (NFs) can monitor response to molecular therapies in newborns with spinal muscular atrophy (SMA; NCT02831296).
Christiano R.R. Alves +13 more
doaj +1 more source
Thrombotic microangiopathy following onasemnogene abeparvovec for spinal muscular atrophy: A case series [PDF]
, 2021 Spinal muscular atrophy is treated with onasemnogene abeparvovec, which replaces the missing survival motor neuron 1 gene via an adeno-associated virus vector.
Goedeker, Natalie L +19 more
core +1 more source
Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy
Frontiers in Neurology, 2021 Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by deletion or mutation of the SMN1 gene. It is characterized by a progressive loss of motor neurons resulting in muscle weakness.
Katarzyna Kotulska +2 more
doaj +1 more source
International Journal of Neonatal Screening, 2022 Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder. Al-though there was no cure for SMA, newly developed therapeutic drugs (nusinersen, onasemnogene abeparvovec, and risdiplam) have been proven effective for the improvement of
Kentaro Okamoto +10 more
doaj +1 more source
Вопросы современной педиатрии, 2021 Background. The efficacy and safety of onasemnogene abeparvovec have been demonstrated in patients with spinal muscular atrophy (SMA) in several clinical and observational studies.
Kristina S. Nevmerzhitskaya +2 more
doaj +1 more source