'Skipping' drug marks step forward for muscular dystrophy

'Skipping' drug marks step forward for muscular dystrophy
An experimental drug designed to provide a DNA patch in a fit faulty gene has a major hurdle in testing of boys in a tragic muscle-wasting disease struck deleted, a British study said on Monday.
The condition, Duchenne muscular dystrophy (DMD), occurs in about one to one in 3,500 men.
It occurs due to a deletion in a gene that makes a protein called dystrophin, which helps a protective membrane around muscle fibers. Without this skin, muscle fibers are damaged and eventually die.
By they time they are aged eight to 12, go to boys with DMD and generally incapable of facing a shortened life expectancy to be.
In DMD, the problem is specifically mentioned in the sections of DNA exons, like stepping stones, provide the path by which the gene makes dystrophin.
The new drug takes the approach of the 'exon skipping', or applying a patch over the tiny molecular deletion, so that the gene can produce a shorter but still functional version of the protein.
After successful tests on cultured muscle cells in a lab dish and in mice, the therapy was carefully tested for safety on 19 ambulatory patients aged five to 15 hospitals in London and Newcastle.
Seven of the 19 showed a "significant" reaction, with an increasing amount of dystrophin, as much as 18 percent of normal levels.
The volunteers, who were treated for 12 weeks suffered no side effects.
They showed no significant improvement in a standard six-minute test, although this is not the goal of mini-trial.
The drug, called AVI-4658, patches exon 51, which is deleted in about 15 percent of patients with DMD.
"Based on our data and recent preclinical data, we expect that longer-term administration of AVI-4658 mg at a dosage of 10 / is kg or greater have sufficient dystrophin expression result to a positive effect on the prevention of muscle degeneration , "says the study, published online by The Lancet.
The next step is to test it for effectiveness, say the researchers, led by Francesco Muntoni the Dubowitz Neuromuscular Centre at the UCL Institute of Child Health in London.