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Splicing therapy for neuromuscular disease

Splicing therapy for neuromuscular disease
Splicing therapy for neuromuscular disease
Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) are two of the most common inherited neuromuscular diseases in humans. Both conditions are fatal and no clinically available treatments are able to significantly alter disease course in either case. However, by manipulation of pre-mRNA splicing using antisense oligonucleotides, defective transcripts from the DMD gene and from the SMN2 gene in SMA can be modified to once again produce protein and restore function. A large number of in vitro and in vivo studies have validated the applicability of this approach and an increasing number of preliminary clinical trials have either been completed or are under way. Several different oligonucleotide chemistries can be used for this purpose and various strategies are being developed to facilitate increased delivery efficiency and prolonged therapeutic effect. As these novel therapeutic compounds start to enter the clinical arena, attention must also be drawn to the question of how best to facilitate the clinical development of such personalised genetic therapies and how best to implement their provision.
1044-7431
169-185
Douglas, Andrew G.L.
2c789ec4-a222-43bc-a040-522ca64fea42
Wood, Matthew J.A.
2dd0c89e-a284-4012-a125-72b883df6af8
Douglas, Andrew G.L.
2c789ec4-a222-43bc-a040-522ca64fea42
Wood, Matthew J.A.
2dd0c89e-a284-4012-a125-72b883df6af8

Douglas, Andrew G.L. and Wood, Matthew J.A. (2013) Splicing therapy for neuromuscular disease. Molecular and Cellular Neuroscience, 56, 169-185. (doi:10.1016/j.mcn.2013.04.005).

Record type: Article

Abstract

Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) are two of the most common inherited neuromuscular diseases in humans. Both conditions are fatal and no clinically available treatments are able to significantly alter disease course in either case. However, by manipulation of pre-mRNA splicing using antisense oligonucleotides, defective transcripts from the DMD gene and from the SMN2 gene in SMA can be modified to once again produce protein and restore function. A large number of in vitro and in vivo studies have validated the applicability of this approach and an increasing number of preliminary clinical trials have either been completed or are under way. Several different oligonucleotide chemistries can be used for this purpose and various strategies are being developed to facilitate increased delivery efficiency and prolonged therapeutic effect. As these novel therapeutic compounds start to enter the clinical arena, attention must also be drawn to the question of how best to facilitate the clinical development of such personalised genetic therapies and how best to implement their provision.

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Accepted/In Press date: 22 April 2013
e-pub ahead of print date: 23 April 2013
Published date: September 2013
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 394075
URI: http://eprints.soton.ac.uk/id/eprint/394075
ISSN: 1044-7431
PURE UUID: 94b236bb-ffec-46dc-8616-b97e55eb25ad
ORCID for Andrew G.L. Douglas: ORCID iD orcid.org/0000-0001-5154-6714

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Date deposited: 11 May 2016 09:31
Last modified: 28 Oct 2023 02:02

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Author: Matthew J.A. Wood

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