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Dog trials could help Duchenne MD treatment

February 16, 2012 12:00:00 AM PST
Man's best friend is helping researchers fight a deadly disease that targets boys. This genetic disease has no cure, no treatment and no survivors. And that's why this promising research is giving hope to families.

Passed from mother to son Duchenne muscular dystrophy (DMP) is the most common fatal genetic disease of children. One in 3,500 boys is diagnosed with it. Over time, they lose more and more muscle, until their lungs or heart become so weak they die. Now a therapy that's been tested in dogs could change that.

Elijah Huynh is full of life. But the 4-year-old has a fatal disease: Duchenne muscular dystrophy, a genetic disorder that attacks muscles. By age 12, boys like Elijah usually lose the ability to walk.

"Every day you see him walking up the stairs or running down 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-20s. Duchenne's kills by weakening all the muscles, including the heart, but there's new hope for families like the Huynhs. 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 nanosurgery. We're making a drug that will go into 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," said Dr. Eric Hoffman, director of the Research Center for Genetic Medicine at Children's National Medical Center.

So far the technique has been effective in dystrophic dogs. Before the treatment, one dog had trouble walking. After treatment, the dog could run. 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. And as a researcher at Children's National Medical Center, the dedicated dad is working on other therapies for Duchenne's.

The new exon-skipping drugs are in phase-one and phase-two trials around the world.

As for the Huynhs, they're expecting a new addition to their family. If the baby is a boy, he will have a 50 percent 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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