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A personalised genetic treatment for DMD

Fletcher, S., Adams, A.M., Harding, P.L., McClorey, G., Muntoni, F., Iversen, P.L. and Wilton, S.D. (2007) A personalised genetic treatment for DMD. In: 5th Australasian Gene Therapy Society Meeting, 18 - 20 April 2007, Shine Dome Academy of Science, Canberra.


Duchenne muscular dystrophy (DMD), the most common severe childhood muscle wasting disease, arises from protein truncating mutations in the dystrophin gene. DMD males are restricted to a wheelchair by age 12 and, until the introduction of steroid treatments, more effective physiotherapy and nocturnal assisted ventilation, the majority did not live past 20 years of age. Becker muscular dystrophy also arises from dystrophin mutations, but these are typically in-frame resulting in a dystrophin that may retain near-normal function. Large segments of the dystrophin gene can be deleted without seriously compromising protein function. We are developing antisense oligonucleotide (AO) induced exon skipping strategies that have the potential to redirect DMD dystrophin pre-mRNA processing, so that an internally deleted, but still functional protein can be generated. Clinical trials are underway in Europe to demonstrate proof of concept, after intramuscular injection of antisense compounds to induce skipping of exon 51. If safety concerns are met, systemic administration will follow as soon as permissible. However, mutations can occur across the entire dystrophin gene. In order to provide a therapy for all suitable patients, it will be essential to apply appropriate AOs to different exons. We have developed a panel of AOs that induce efficient skipping of more than 55 dystrophin exons. Clinical testing of this number of AOs is not feasible, but if a class of compounds that exhibit an excellent safety profile can be used, a personalised genetic therapy approach may be considered.

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