In 13% of Duchenne cases, including Matt's, one particular typo is the culprit: It is called a nonsense mutation.
Matt is one of 13, 000 boys in the U.S. who have a rare form of muscular dystrophy known as Duchenne.
Duchenne patients have more of the integrin, but fail to produce another protein, dystrophin, which is also required for healthy muscles.
Dr. Kunkel's laboratory discovered the gene causing Duchenne muscular dystrophy in 1986.
It can be used to check an embryo does not carry any one of 50 different conditions including cystic fibrosis and Duchenne muscular dystrophy.
These experimental therapies target patients with mutations affecting about 12% of Duchenne patients, though companies are targeting other mutations using the same technology, researchers say.
But Sarepta is working on other exon-skipping drugs that skip exon 45 and exon 50, which could help 9% and 5% of Duchenne patients, respectively.
FORBES: In A First, An Experimental Drug May Help Boys With Muscular Dystrophy
Duchenne is caused by misspellings in the gene that tells the body to produce a protein called dystrophin, a glue that helps hold muscle tissue together.
Boys with Duchenne muscular dystrophy lack this protein, called dystrophin.
Jack Price, six, from Swansea, also has Duchenne muscular dystrophy.
She tells them to bring their cheeks up higher and pull their whole face upward, and she makes sure the eyes show the warmth of a sincere Duchenne smile.
Such a smile, commonly referred to as a Duchenne smile, after the 19th century French neurologist who first described it, activates major muscles around the mouth and the eyes.
Eighty-five percent of Duchenne patients have the exon-skipping gene.
FORBES: In A First, An Experimental Drug May Help Boys With Muscular Dystrophy
Sarepta, formerly known as AVI Biopharma, boomed because of data from an 8-patient study that shows unprecedented efficacy for its drug, eteplirsen, dramatically reduced the rate at which patients with Duchenne muscular dystrophy worsened.
FORBES: Sarepta Outperformed Biotechs In August Due To Muscular Dystrophy Drug
Wyeth, one of the world's largest pharmaceutical companies, created a myostatin-blocking drug and put it into clinical trials for Duchenne muscular dystrophy, a muscle-wasting disease that kills hundreds of men each year before they reach their mid-thirties.
Moreover, while the patient base for Duchenne may be too small to spark a billion-dollar drug, the PTC chemical could work against similar underlying gene flaws in other disorders such as cystic fibrosis, hemophilia and spinal muscular atrophy.
In effect, Duchenne patients could develop a milder form of the disease, known as Becker muscular dystrophy, says Petra Kaufmann, a neuromuscular researcher who directs the Office of Clinical Research at the National Institute of Neurological Disorders and Stroke.
The sale will be preceded by a nine-city world tour beginning August 30 that will end with a three-day exhibition at the Monaco Yacht Show, which is co-organizing Only Watch with the Monaco Association against Duchenne Muscular Dystrophy and Antiquorum.
The benefits go far beyond the Duchenne muscular dystrophy, a disease that is diagnosed in only 600 American boys a year, to diseases like cancer and AIDS. Such drugs could even have a big effect on the muscle weakening that comes with aging.
One big question: would the limited data Sarepta has so far collected from a very small clinical trial of its drug eteplirsen, a treatment for Duchenne muscular dystrophy that is caused by a very specific type of mutation, be enough to warrant filing with the Food and Drug Administration and perhaps even gain approval?
FORBES: A Key Exchange On Sarepta Therapeutics' Promising Muscular Dystrophy Drug
Duchenne muscular dystrophy, discovered by French neurologist Guillaume Duchenne in 1868, accounts for 40% of the cases of muscular dystrophy in the U.S. In 1987 it became one of the first ailments linked to a defect in a particular gene, but since then the main treatments have been limited and unable to halt the disease's devastating effects.
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