Results 21 to 30 of about 1,998 (153)

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   +3 more sources

Vaccination proposal for patients on onasemnogene abeparvovec therapy

European Journal of Paediatric Neurology
The approval of disease-modifying treatment in spinal muscular atrophy made the condition less severe. The course of the disease changed, but some new concerns occurred with the different new therapies. The side effects of onasemnogene aboparvovec therapy can raise differential diagnostic challenges and necessitate immune therapy, leading to ...
Tamás Constantin, Lena Szabó, Dobner Sarolta   +2 more
exaly   +3 more sources

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24-Month Follow-Up From the Italian Registry. [PDF]

Ann Clin Transl Neurol
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Pane M, Coratti G, Cutrì C, Varone A, Masson R, D'Amico A, Sansone V, Messina S, Ricci F, Ticci C, Bruno C, Agosto C, Benedetti F, Pini A, Siliquini S, Filosto M, Zambon A, Bitetti I, Manna MR, Dosi C, Zanin R, Parravicini S, De Sanctis R, Stanca G, Catteruccia M, Tosi M, Mizzoni I, Albamonte E, Franchino V, Sframeli M, Cavallina I, Procopio E, Sacchini M, Morando S, Brolatti N, Trucco F, Scarpini G, Briganti E, Berti B, Palermo C, Leone D, Previtali SC, Mercuri E, ITASMAC working group.   +43 more
europepmc   +2 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

Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry. [PDF]

J Neuromuscul Dis
International audience© 2024 - The authors. Published by IOS Press.Background: Long-term, real-world effectiveness and safety data of disease-modifying treatments for spinal muscular atrophy (SMA) are important for assessing outcomes and providing ...
Servais L, Day JW, De Vivo DC, Kirschner J, Mercuri E, Muntoni F, Proud CM, Shieh PB, Tizzano EF, Quijano-Roy S, Desguerre I, Saito K, Faulkner E, Benguerba KM, Raju D, LaMarca N, Sun R, Anderson FA, Finkel RS.   +18 more
europepmc   +8 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, Mendell, Jerry R, Kwon, Jennifer M, McMillan, Hugh J, Chiriboga, Claudia A, Parsons, Julie A, Muntoni, Francesco, Saito, Kayoko, Kavanagh, Sarah, Farrar, Michelle A, Swoboda, Kathryn J, Krueger, Jena M, Iannaccone, Susan T, Zaidman, Craig M, Strauss, Kevin A, Finkel, Richard S, Shieh, Perry B, Servais, Laurent, McGill, Bryan E, Macek, Thomas A   +19 more
core   +7 more sources

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, Reyna, Sandra P, Millner, Rachel, Zaidman, Craig, Arya, Kapil, Mackie, Fiona E, Dharnidharka, Vikas R, Dandamudi, Raja, Farrar, Michelle A, Chand, Deepa H   +9 more
core   +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

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 ...
Zaidman, Craig M, Strauss, Kevin A, et al,   +2 more
core   +7 more sources

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