Results 71 to 80 of about 2,067 (154)

Engineering mRNA‐LNP Medicines for the Ageing Brain: Opportunities and Challenges for Neurodegenerative Diseases

Exploration, Volume 6, Issue 5, October 2026.
This review highlights recent advances in engineering messenger RNA (mRNA)‐lipid nanoparticles (LNPs) to cross the ageing blood–brain barrier and target neurodegenerative diseases. It outlines design principles, delivery routes, and translational challenges, charting a roadmap towards clinical application of mRNA‐LNP therapeutics for neurodegenerative ...
Abdel Ali Belaidi, Denzil L. Furtado, Francesca Alves, Rebecca M. Nisbet, Scott Ayton, Ashley I. Bush   +5 more
wiley   +1 more source

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU) : an open-label, single-arm, multicentre, phase 3 trial

, 2021
Background Spinal muscular atrophy is a rare, autosomal recessive, neuromuscular disease caused by biallelic loss of the survival motor neuron 1 (SMN1) gene, resulting in motor neuron dysfunction.
Mendonca, N, Straub, V, Chand, D, Boespflug-Tanguy, O, Lavrov, A, Masson, R, Vanlander, ArnaudGE35UZGent0020013726078020010950250000-0002-9520-556400FCD042-F0EE-11E1-A9DE-61C894A0A6B4, Muntoni, F, Mercuri, E, Ouyang, H, Deconinck, NicolasUZGent9748947528672c2f287f-38e0-11eb-9f20-e6a3a63a89a2, Baranello, G, Servais, L, Bruno, C, Corti, S, Daron, A, study group, STR1VE-EU, Tauscher-Wisniewski, S   +17 more
core   +2 more sources

Improved gene therapy for spinal muscular atrophy in mice using codon-optimized hSMN1 transgene and hSMN1 gene-derived promotor

EMBO Molecular Medicine
Physiological regulation of transgene expression is a major challenge in gene therapy. Onasemnogene abeparvovec (Zolgensma®) is an approved adeno-associated virus (AAV) vector gene therapy for infants with spinal muscular atrophy (SMA), however, adverse ...
Qing Xie, Xiupeng Chen, Hong Ma, Yunxiang Zhu, Yijie Ma, Leila Jalinous, Gerald F Cox, Fiona Weaver, Jun Yang, Zachary Kennedy, Alisha Gruntman, Ailing Du, Qin Su, Ran He, Phillip WL Tai, Guangping Gao, Jun Xie   +16 more
doaj   +1 more source

Recent Advance in Disease Modifying Therapies for Spinal Muscular Atrophy

Acta Neurologica Taiwanica
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease characterized by progressive weakness and atrophy of skeletal muscles. With homozygous survival motor neuron 1 (SMN1) gene mutation, all SMA patients have at least one copy of ...
Li-Kai Tsai, Chen-Hung Ting, Yo-Tsen Liu, Cheng-Tsung Hsiao, Wen-Chin Weng, Society for Neurological Rare Disorders-Taiwan   +5 more
doaj   +1 more source

Maternal‐Fetal Administration of Risdiplam Partially Rescues the SMNΔ7 Mouse Model of Spinal Muscular Atrophy

Annals of Neurology, Volume 100, Issue 3, Page 584-599, September 2026.
Objective Spinal muscular atrophy (SMA) is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene and subsequent reduction in the expression of survival motor neuron (SMN) protein. The disease is characterized by degeneration of α motor neurons and subsequent muscle atrophy.
Emma R. Sutton, Ariane Beauvais, Rebecca Yaworski, Hugh J. McMillan, Rashmi Kothary   +4 more
wiley   +1 more source

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

Fatal thrombotic microangiopathy case following adeno-associated viral SMN gene therapy

, 2022
Adeno-associated virus (AAV) gene therapies are highly promising, such as the onasemnogene abeparvovec (Zolgensma) in spinal muscle atrophy (SMA).
Guillou, Julia, Péréon, Yann, Allain-Launay, Emma, Barnérias, Christine, Debord, Camille, Denis, Manon, Mercier, Sandra, de Pellegars, Alice, Frémeaux-Bacchi, Véronique, Roussey, Gwenaëlle, Porcheret, Florence, Desguerre, Isabelle   +11 more
core   +1 more source

A consensus survey of neurologists and clinical geneticists on spinal muscular atrophy treatment in Singapore

Annals, Academy of Medicine, Singapore
Just a decade ago, spinal muscular atrophy (SMA) was considered a debilitating, progressive neuromuscular disease that inevitably led to chronic disability and a shortened lifespan.
Jocelyn Yi Xiu Lim, Furene Sijia Wang, Simon Robert Ling, Stacey Kiat Hong Tay   +3 more
doaj   +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