New procedure in testing to slow the symptoms of Duchenne Muscular Dystrophy

Passed from mother to son, Duchenne Muscular Dystrophy 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. A therapy that's been tested in dogs could now change that.

Elijah Huynh is full of life, but the four-year-old has a fatal disease: Duchenne's Muscular Dystrophy.

A genetic disorder that causes the muscles to weaken, and by age 12, boys like Elijah usually lose the ability to walk.

Tony Huynh, Elijah's Dad, describes the thoughts he has about trying to help his son, "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."

Survival is rare beyond the mid-twenties, but there is 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.

Eric Hoffman, PhD, Director of the Research Center for Genetic Medicine at Children's National Medical Center, explains how the procedure works, "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 have a more functional gene when they didn't before."

So far the technique has been effective in dystrophic dogs. Before the treatment this dog had trouble walking. After treatment, you can see the puppy running. A safety trial in humans found the drug restored some muscle proteins that are absent or abnormal in people with MD.

Dr. Hoffman, PhD, explains how optimistic people are for more tests to be done, "Everybody's very optimistic that we'll at least stabilize if not make patients considerably better."

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

Meghan and Tony Huynh, explain how any treatment would make them happy, "Any sort of slowdown that we could get would be, would just be great."

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 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.

MEDICAL BREAKTHROUGHS
RESEARCH SUMMARY

TOPIC: DUCHENNE'S MUSCULAR DYSTROPHY: A DOG'S SOLUTION
REPORT: MB# 3422

BACKGROUND: Duchenne muscular dystrophy (DMD) is an inherited disorder that involves rapidly worsening muscle weakness. This severe, debilitating and ultimately fatal disease is one of the most frequent genetic conditions affecting approximately 1 in 3500 male births worldwide. Affected boys are usually wheelchair-bound by their teenage years. By their late teens or twenties, the boys usually experience respiratory failure or cardiomyopathy often times resulting in death.
SOURCE: (www.ncbi.nlm.nih.gov/pubmedhealth); (www.webmd.com); (www.plosone.org/)

CAUSES: DMD is genetic, but people without a known family history of the disease can get it as well. This fatal degenerative condition is caused by an absence or deficiency of dystrophin in striated muscle. Dystophin is a protein that helps keep muscle cells intact. It is also an integral structural component of skeletal and cardiac muscles and connects the contractile apparatus to the sarcolemma.
SOURCE: (www.plosone.org/)

THINGS YOU DIDN'T KNOW: Males are more likely to inherit the disease than are women. The sons of females who are carriers of the disease (women with a defective gene but no symptoms themselves) each have a 50% chance of having the disease. The daughters each have a 50% chance of being carriers.
SOURCE: (www.ncbi.nlm.nih.gov/pubmedhealth)

DETECTIONS: With DMD, boys begin showing signs of muscle weakness as early as three. The disease gradually begins to weaken skeletal, or voluntary, muscles found in the arms, legs, and trunk. Respiratory muscles may also be affected by the boys early teens, and in some cases even earlier.
SOURCE: (Duchenne & Becker Muscular Dystrophies, 2009)

LATEST BREAKTHROUGHS: Exon skipping is a new procedure used to treat DMD. Removing a specific exon from a defective DMD gene transcript has the potential to allow synthesis of a semi-functional dystrophin, thereby reducing the severity and presumably progression of muscle wasting. The efficacy of this treatment will vary greatly between the different mutations that preclude the synthesis of a functional dystrophin.
SOURCE: (www.ncbi.nlm.nih.gov/pubmedhealth)

PREVENTION: Since DMD is genetic there is no way to prevent the disease, however, doctors do recommend people with a family history of disease undergo genetic counseling. Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies performed during pregnancy.

FOR MORE INFORMATION, PLEASE CONTACT:

Marie Pichaske
Children's National Medical Center
(202) 476-6029

If this story or any other Ivanhoe story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Andrew McIntosh at amcintosh@ivanhoe.com.

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Ivanhoe Broadcast News 2745 W. Fairbanks Avenue Winter Park, FL 32789 (407) 740-0789 http://www.ivanhoe.com


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