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Molecular scalpel repairs defective muscular dystrophy DNA

1 August 2011
Appeared in BioNews 618

UK researchers have successfully trialled a new drug to help patients with a severe form of muscular dystrophy. The new drug helps cells skip past sections of a gene damaged in Duchenne Muscular Dystrophy (DMD) so they can make smaller - but better functioning - dystrophin proteins.

Dystrophin protects and connects muscle fibres. DMD affects about one in 3,500 boys who normally die in their teens or early twenties and has no cure or real treatment.

'I've worked with patients with DMD for many years and this is the first time we can say with confidence that we've made a significant breakthrough towards finding a targeted treatment', said lead researcher Professor Francesco Muntoni from the Institute of Child Health, London.

Three boys, on the highest drug doses, had levels of normal dystrophin protein 18 percent (%) that of those of unaffected boys. One boy's functional dystrophin level rose from near zero to 50% of normal.

The test was a phase two clinical trial, assessing which of six drug dosage levels was best, whether there were side effects, and how effective the drugs were. Nineteen boys, aged between 5 and 15 years old, were put on the drug for 12 weeks.

This drug targets mutations in exon 51 found in 13% of people with DMD. A different drug will be needed to work on the next most common mutation, found in 11% of people with the condition. Malfunctioning dystrophin leads to loss of limb strength, inability to breath properly or maintain bowel movements, and defective heart function.

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13 June 2011 - by Sarah Pritchard 
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