Results 1 to 10 of about 152 (86)

An updated cost-utility model for onasemnogene abeparvovec (Zolgensma®) in spinal muscular atrophy type 1 patients and comparison with evaluation by the Institute for Clinical and Effectiveness Review (ICER)

Journal of Market Access & Health Policy, 2021
Background: Recent cost-utility analysis (CUA) models for onasemnogene abeparvovec (Zolgensma®, formerly AVXS-101) in spinal muscular atrophy type 1 (SMA1) differ on key assumptions and results.
Douglas M Sproule, Douglas E Feltner, Daniel C Malone   +2 more
exaly   +2 more sources

Adeno-associated virus serotype 9 antibodies in patients screened for treatment with onasemnogene abeparvovec

Molecular Therapy - Methods and Clinical Development, 2021
Spinal muscular atrophy is a progressive, recessively inherited monogenic neurologic disease, the genetic root cause of which is the absence of a functional survival motor neuron 1 gene. Onasemnogene abeparvovec (formerly AVXS-101) is an adeno-associated
John W Day, Richard S Finkel, Eugenio Mercuri   +2 more
exaly   +3 more sources

Expanding the Availability of Onasemnogene Abeparvovec to Older Patients: The Evolving Treatment Landscape for Spinal Muscular Atrophy

Pharmaceutics, 2023
Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder caused by mutations in the survival of motor neuron 1 (SMN1) gene, which leads to a reduced level in the SMN protein within cells.
Robin J Parks
exaly   +3 more sources

Implications of circulating neurofilamentsfor spinal muscular atrophytreatment early in life: A case series

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, Marco Petrillo, Rebecca Spellman, Reid Garner, Ren Zhang, Michael Kiefer, Sarah Simeone, Jihee Sohn, Eric J. Eichelberger, Emma Rodrigues, Elizabeth A. Arruda, Elise L. Townsend, Wildon Farwell, Kathryn J. Swoboda   +13 more
doaj   +1 more source

Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification

Annals of Clinical and Translational Neurology, 2023
We sought to devise a rational, systematic approach for defining/grouping survival motor neuron‐targeted disease‐modifying treatment (DMT) scenarios.
Crystal M. Proud, Eugenio Mercuri, Richard S. Finkel, Janbernd Kirschner, Darryl C. De Vivo, Francesco Muntoni, Kayoko Saito, Eduardo F. Tizzano, Isabelle Desguerre, Susana Quijano‐Roy, Kamal Benguerba, Dheeraj Raju, Eric Faulkner, Laurent Servais   +13 more
doaj   +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, Aviva Fattal-Valevski, Jana Haberlova   +2 more
doaj   +1 more source

Changes in the Incidence of Infantile Spinal Muscular Atrophy in Shikoku, Japan between 2011 and 2020

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, Hisahide Nishio, Takahiro Motoki, Toshihiro Jogamoto, Kaori Aibara, Yoichi Kondo, Kentaro Kawamura, Yukihiko Konishi, Chiho Tokorodani, Ritsuo Nishiuchi, Mariko Eguchi   +10 more
doaj   +1 more source

Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy

Annals of Clinical and Translational Neurology, 2022
Objective To provide a greater understanding of the tolerability, safety and clinical outcomes of onasemnogene abeparvovec in real‐world practice, in a broad population of infants with spinal muscular atrophy (SMA).
Arlene M. D'Silva, Sandra Holland, Didu Kariyawasam, Karen Herbert, Peter Barclay, Anita Cairns, Suzanna C. MacLennan, Monique M. Ryan, Hugo Sampaio, Nicholas Smith, Ian R. Woodcock, Eppie M. Yiu, Ian E. Alexander, Michelle A. Farrar   +13 more
doaj   +1 more source

Short-Term Safety and Efficacy of Onasemnogene Abeparvovec in 10 Patients with Spinal Muscular Atrophy: Cohort Study

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, Elena Yu. Sapego, Daria A. Morozova   +2 more
doaj   +1 more source

Is gene therapy in spinal muscular atrophy safe? A casereport of thrombotic microangiopathy following onasemnogene abeparvovec

Journal of Pre-Clinical and Clinical Research, 2022
Spinal muscular atrophy is a neuromuscular disorder caused by a mutation in the survival of SMN1 gene. Diagnosis of the disease is based mainly on the presence of hypotonia and symmetrical [1].
Aleksandra Ziółkiewicz, Michał Bielak, Iwona Welian, Magdalena Chrościńska- Krawczyk   +3 more
doaj   +1 more source