Experimental treatment for muscular dystrophy

Experimental treatment for muscular dystrophy

Treatment uses exon skipping to counteract genetic errors causing muscular dystrophy

THE NEW YORK TIMES

September 24, 2013

Terri Ellsworth is convinced that her 12-year-old son Billy, who has Duchenne muscular dystrophy, is being helped by an experimental drug that counteracts the genetic mutation causing his disease.

His ability to walk has not deteriorated in the two years he has been on the drug, whereas many boys with the disease would be in wheelchairs by his age. Billy opened a Gatorade bottle by himself recently, beaming from ear to ear. He even took off down an uneven dirt path without falling.

He never would have done that, ever, said Ellsworth, 55, a kitchen and bath designer from Coraopolis, Pa., outside Pittsburgh. Without this drug, he would not be walking today.

Such anecdotal reports, and data from small clinical trials, have raised hopes that a new genetic technique called exon skipping may slow the progression of Duchenne muscular dystrophy, finally yielding a treatment for which parents have prayed for decades. Scientists say the technique or related ones might also point the way to treatments for other inherited diseases, including Huntingtons.

The idea behind exon skipping is an ingenious one: a disease can be cured, or at least ameliorated, not by replacing a defective gene, as is done in gene therapy, but by correcting it.

Were sort of manipulating what the gene is ultimately making, said Adrian R. Krainer, a professor of molecular genetics at the Cold Spring Harbor Laboratory.

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Experimental treatment for muscular dystrophy