ABC 12 – WJRT – Flint, MIDogs help fight deadly muscular dystrophy

(02/09/12) - Dogs afflicted with a rare form of muscular dystrophy may hold the key to saving children battling the same disorder.

It is called Duchenne muscular dystrophy, and it affects mostly human boys. Dogs can be born with it, too. Over time, it robs sufferers of muscle, until their lungs or hearts become so weak, they die.

Elijah Huynh is full of life. But, the four-year-old fights an every day battle against Duchenne muscular dystrophy. 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," says Elijah's father, Tony.

Survival is rare beyond the mid-20s. But, there is 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.

Dr. Eric Hoffman is the director of the Research Center for Genetic Medicine at Children's National Medical Center. Hoffman says, "in many respects, it's like nano surgery. 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."

So far, the technique has been effective in dystrophic dogs. One puppy, barely able to walk before treatment, is able to run after. A safety trial in humans found the drug restored some muscle proteins that are absent or abnormal in people with muscular dystrophy.

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

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

"Any sort of slow down that we could get would be, would just be great.," says Elijah's mother, Meghan

The Huynh's are 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. A baby girl has a 50 percent chance of being a carrier. Duchenne can also occur in people without a known family history.

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