McMillan, Hugh J;
Proud, Crystal M;
Farrar, Michelle A;
Alexander, Ian E;
Muntoni, Francesco;
Servais, Laurent;
(2022)
Onasemnogene abeparvovec for the treatment of spinal muscular atrophy.
Expert Opinion on Biological Therapy
10.1080/14712598.2022.2066471.
(In press).
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Abstract
INTRODUCTION: Gene therapy for spinal muscular atrophy (SMA) represents a significant milestone in the treatment of neurologic diseases. SMA is a neurodegenerative disease that results in motor neuron loss because of mutations of the survival motor neuron 1 gene, which directs survival motor neuron (SMN) protein production. Onasemnogene abeparvovec, a one-time gene replacement therapy, delivers a functional transgene to restore SMN protein expression. Onasemnogene abeparvovec has demonstrated improved survival and motor milestone achievements for presymptomatic infants and patients with SMA type 1. AREAS COVERED: This expert review describes the current state of gene therapy for SMA, reviews the mechanism of and clinical experience with onasemnogene abeparvovec, explains future efforts to expand applications of gene therapy for SMA, and provides context for developing gene therapy for other conditions. EXPERT OPINION: Onasemnogene abeparvovec has demonstrated efficacy in clinical trials and, because of this, is a valuable treatment option for patients with symptomatic infantile SMA and those identified by newborn screening. Gene therapy is still in its infancy, and challenges and uncertainties associated with transgene delivery must be addressed. With ongoing development of vector technology, more specific tissue tropism, reduced 'off-target' effects, and an enhanced safety profile will continue to evolve.
| Type: | Article |
|---|---|
| Title: | Onasemnogene abeparvovec for the treatment of spinal muscular atrophy |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1080/14712598.2022.2066471 |
| Publisher version: | https://doi.org/10.1080/14712598.2022.2066471 |
| Language: | English |
| Additional information: | © 2022 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License (http://creativecommons.org/licenses/by-nc-nd/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited, and is not altered, transformed, or built upon in any way. |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Biotechnology & Applied Microbiology, Medicine, Research & Experimental, Research & Experimental Medicine, Adeno-associated viral vector, disease-modifying treatments, gene therapy, motor milestones, newborn screening, neurodegenerative disorders, onasemnogene abeparvovec, spinal muscular atrophy, survival motor neuron, vector genomes, NEUROMUSCULAR DISEASE REGISTRY, GENE-REPLACEMENT THERAPY, SMN2 COPY NUMBER, ADENOASSOCIATED VIRUS, CONSENSUS STATEMENT, SINGLE-ARM, OPEN-LABEL, AAV, SURVIVAL, CARE |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10151023 |
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