Elijah Huynh is full of life, but the four-year-old has a fatal disease called duchenne muscular dystrophy, a genetic disorder that causes the muscles to weaken. 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-twenties, but 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. 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 has a more functional gene when they didn't before," Eric Hoffman, Ph.D., director of the research centerfor genetic medicine at Children's National Medical Center, explained.
So far the technique has been effective in dystrophic dogs. 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 patient's considerably better," Dr. Hoffman said.
Elijah's father plans on putting his boy in the exon skipping trials, and as a researcher at Children's National, the dedicated dad is working on other therapies for duchenne.
"Any sort of slowdown that we could get would be, would just be great," Tony said.
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. A baby girl has a 50% chance of being a carrier. Duchenne can also occur in people without a known family history.
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Children's National Medical Center