Results 111 to 120 of about 3,107 (205)

Promoting expression in gene therapy: more is not always better

EMBO Molecular Medicine
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by loss-of-function of SMN1. SMA is characterized by degeneration of motor neurons in the spinal cord, leading to progressive muscle weakness and atrophy.
Maria M Zwartkruis, Ewout JN Groen
doaj   +1 more source

Systematic Review of Presymptomatic Treatment for Spinal Muscular Atrophy

International Journal of Neonatal Screening
Spinal muscular atrophy (SMA) causes the degeneration of motor neurons in the spinal cord. Treatments including nusinersen, risdiplam, and onasemnogene abeparvovec have been shown to be effective in reducing symptoms, with recent studies suggesting ...
Katy Cooper, Gamze Nalbant, Anthea Sutton, Sue Harnan, Praveen Thokala, Jim Chilcott, Alisdair McNeill, Alice Bessey   +7 more
doaj   +1 more source

Quality of Life of Children With Spinal Muscular Atrophy: Parents’ Perspectives in Light of New Treatments [PDF]

, 2020
Purpose: To directly compare parents’ perspectives of the quality of life of their children with Spinal Muscular Atrophy (SMA) who received supportive care, nusinersen (Spinraza®), onasemnogene abeparvovec-xioi (Zolgensma®), or both nusinersen and ...
Tallas, Analyssa R.
core   +1 more source

Onasemnogene Abeparvovec-xioi: World’s most expensive and approved therapy for spinal muscular atrophy

, 2021
Aslam Pathan, Vinod Bairagi
openalex   +1 more source

Disease Modifying Therapies for the Management of Children with Spinal Muscular Atrophy (5q SMA): An Update on the Emerging Evidence

Drug Design, Development and Therapy, 2022
Helgi Thor Hjartarson,1 Kristofer Nathorst-Böös,1 Thomas Sejersen1,2 1Department of Neuropediatrics, Astrid Lindgren Children´s Hospital, Karolinska University Hospital, Stockholm, Sweden; 2Department of Women’s and Children’s Health, Karolinska ...
Hjartarson HT, Nathorst-Böös K, Sejersen T   +2 more
doaj  

Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data [PDF]

, 2022
Judit Erdös, Claudia Wild
openalex   +1 more source

Thrombotic Microangiopathy as an Emerging Complication of Viral Vector-Based Gene Therapy. [PDF]

Gene therapy has brought tremendous hope for patients with severe life-threatening monogenic diseases. Although studies have shown the efficacy of gene therapy, serious adverse events have also emerged, including thrombotic microangiopathy (TMA ...
Desguerre, I., El Sissy, C., Fakhouri, F., Frémeaux-Bacchi, V., Schwotzer, N., Servais, L.   +5 more
core   +2 more sources

Newborn screening for spinal muscular atrophy: Variations in practice and early management of infants with spinal muscular atrophy in the United States [PDF]

In the United States (U.S.), newborn screening (NBS) for spinal muscular atrophy (SMA) is implemented by individual states. There is likely variation in the practice patterns of state NBS programs and among the providers caring for newborns with SMA ...
Crockett, Cameron D, Goedeker, Natalie, Tabatabai, Grace, Wedge, Ethan, Zaidman, Craig M   +4 more
core   +2 more sources

Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016 [PDF]

Background The advent of disease-modifying treatments (DMT) has changed natural history in 5q Spinal muscular atrophy (SMA). The aim of this study was to report survival and functional aspects in all the Italian type I children born since 2016.
Baranello G., Bertini E., Bravetti C., Coratti G., de Sanctis R., Fanelli L., Genovese O., Leone D., Mercuri E., Palermo C., Pane M., Pera M. C., Piastra M., Vento A.   +13 more
core   +4 more sources

PP153 Efficacy And Safety of Onasemnogene Abeparvovec For The Treatment Of Patients With Spinal Muscular Atrophy Type 1: Meta-Analysis [PDF]

, 2023
Stéfani Sousa Borges, Brígida Dias Fernandes, Fernanda Luciano Rodrigues, Bárbara Krug, Hérica Núbia Cardoso Cirilo, Ida Vanessa Döederlein Schwartz, Lívia Fernandes Probst, Ivan Ricardo Zimmermann   +7 more
openalex   +1 more source