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Published on: September 14, 2019
New developments in the use of gene therapy to treat Duchenne muscular dystrophy
Susan Jarmin1, Hanna Kymalainen, Linda Popplewell
1Royal Holloway University of London , Egham, Surrey , UK G.Dickson@rhul.ac.uk.
Introduction:
Duchenne muscular dystrophy (DMD) is a lethal X-linked inherited disorder characterised by progressive muscle weakness, wasting and degeneration. Although the gene affected in DMD was identified over 25 years ago, there is still no effective treatment.
Areas Covered:
Here we review some of the genetic-based strategies aimed at amelioration of the DMD phenotype. A number of Phase II/III clinical trials of antisense oligonucleotide-induced exon skipping for restoration of the open reading frame (ORF) of the DMD gene have recently been completed. The potential strategies for overcoming the hurdles that appear to prevent exon skipping becoming an effective treatment for DMD currently are discussed.
Expert Opinion:
The applicability of exon skipping as a therapy to DMD is restricted and the development of alternative strategies that are more encompassing is needed. The rapid pre-clinical advances that are being made in the field of adeno-associated virus (AAV)-based delivery of micro-dystrophin would address this. The obstacles to be faced with gene replacement strategies would include the need for high viral titres, efficient muscle targeting and avoidance of immune response to vector and transgene. The new emerging field of gene editing could potentially provide permanent correction of the DMD gene and the feasibility of such an approach to DMD is discussed.
Insights
Duchenne muscular dystrophy (DMD) treatment remains challenging. While exon skipping shows promise, gene replacement and editing offer broader potential for this genetic disorder.
Area of Science:
- Genetics
- Molecular Biology
- Neuromuscular Disorders
Background:
- Duchenne muscular dystrophy (DMD) is a fatal X-linked inherited disorder causing progressive muscle degeneration.
- Despite identifying the causative gene over 25 years ago, effective treatments for DMD are still lacking.
Purpose of the Study:
- To review genetic-based strategies for ameliorating the Duchenne muscular dystrophy (DMD) phenotype.
- To discuss current challenges and potential solutions for exon skipping therapy in DMD.
- To explore alternative and emerging genetic therapies for DMD.
Main Methods:
- Review of Phase II/III clinical trials for antisense oligonucleotide-induced exon skipping in DMD.
- Discussion of strategies to overcome hurdles in exon skipping efficacy.
- Analysis of adeno-associated virus (AAV)-based micro-dystrophin delivery and gene editing for DMD.
Main Results:
- Exon skipping clinical trials have been completed, but its applicability to DMD is restricted.
- Adeno-associated virus (AAV)-based micro-dystrophin delivery shows rapid pre-clinical advances.
- Gene editing presents a potential for permanent correction of the DMD gene.
Conclusions:
- Current exon skipping therapy for Duchenne muscular dystrophy (DMD) has limitations.
- Alternative strategies like gene replacement (micro-dystrophin via AAV) and gene editing are needed for more comprehensive DMD treatment.
- Challenges for gene replacement include high viral titres, muscle targeting, and immune response; gene editing offers permanent correction potential.
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