Man's best friend helps reserachers fight Duchenne's


March 21, 2012 10:09:37 AM PDT
Passed from mother to son, Duchenne Muscular Dystrophy is the most common fatal genetic disease of children.

One in 3,500 boys are diagnosed with it. Over time, they lose more and more muscle, until their lungs or heart become so weak they die. But a new report shows that a treatment tested in Dystrophic dogs could change that.

Elijah Huynh is full of life. But the 4-year-old has the fatal disease, which is a genetic disorder. By age 12, boys like Elijah usually lose the ability to walk.

"Every day you see him walking up the stairs or running down the hills, it's always in the back of your head maybe we should be picking him up because that could be doing more damage," said Tony Huynh, Elijah's dad.

Survival is rare beyond the mid-twenties. Now, there's new hope for families like the Huynh's. Through a technique called Exon Skipping, the specific mutation that causes Duchenne can be targeted to help correct the defect.

"In many respects, it's like Nano surgery," said Eric Hoffman, PhD, the Director of the Research Center for Genetic Medicine at Children's National Medical Center. "We're making a drug that will go in to the muscle throughout a patient and do a repair on the RNA, so the patient can now have a more functional gene when they didn't before."

So far, the technique has been effective in Dystrophic dogs. Before treatments, some dogs had trouble walking and after treatments, they started running. A safety trial in humans found the drug restored some muscle proteins that are absent or abnormal in people with MD.

"Everybody's very optimistic that we'll at least stabilize if not make patients considerably better," said Hoffman.

Elijah's father plans on putting his boy in the Exon Skipping trials. As a researcher at Children's National, the dedicated dad is working on other therapies for Duchenne's.

"Any sort of slowdown that we could get would be, would just be great," said Huynh.

The new Exon Skipping drugs are in Phase One and Phase Two trials around the world. As for the Huynh's, they're expecting a new addition to their family. If the baby is a boy, he will have a 50% chance of being born with Duchenne's. A baby girl has a 50 percent chance of being a carrier. Duchenne's can also occur in people without a known family history.

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