Buying Time
Researcher explores whether a heart medicine could halt a devastating muscle disease
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Dr. Kan Hor, a pediatric cardiologist in the Heart Institute at Cincinnati Children’s, is researching whether eplerenone, a drug commonly used to treat high blood pressure in adults, could stop heart damage in boys with Duchenne muscular dystrophy. |
Kan Hor, MD, is racing the clock to catch a killer. Armed with imaging tools to detect early signs of heart disease, the pediatric cardiologist knows what he is after: Duchenne muscular dystrophy.
But the killer is quick. It destroys muscles in young boys, leaving them wheelchair-bound by age 12 and lucky if they reach their third decade of life at all. Most of its victims die of heart problems.
“In the past, these boys were left untreated because of the short lifespan,” Hor says. “But that’s exactly the reason to treat these patients — so that they can not only live longer but live a better quality of life.”
The Drug Application Treatment Use |
The Magic Bullet?
The magic bullet against Duchenne may be within reach. An anti-fibrosis drug called eplerenone, which has long been used to treat heart attack victims, shows promise against the disease.
Extensive research, including studies in mice affected with Duchenne, suggests that the drug could slow or stop heart damage that makes the disease deadly.
Hor is the principal investigator at Cincinnati Children’s, along with the Duchenne care team, works with doctors from Ohio State University and The Christ Hospital on a clinical trial that is the first of its kind. It will test the drug regimen to see if earlier diagnosis and treatment with anti-fibrotic medication could help patients with Duchenne survive longer.
“We know that many patients with Duchenne muscular dystrophy die from heart disease, within the second or third decade of life,” Hor says. “By decreasing the scar burden, we hope to see that the function will remain normal longer, which could lead to improved quality of life.”
The Sooner The Better
Hor and his colleagues use enhanced cardiac magnetic resonance imaging — more sensitive than a standard echocardiogram — to catch slight declines in heart function even before patients are teenagers.
John “Lynn” Jefferies, MD, Director of advanced heart failure and cardiomyopathy, says this makes Cincinnati Children’s a bit of a trendsetter. Advanced non-invasive imaging allows doctors to deliver better care, he says.
“Very few institutions would entertain the possibility of cardiovascular involvement at a young age,” he says. “We feel that because this is such a devastating illness, early diagnosis can lead to early intervention. And early intervention can, in theory at least, lead to better outcomes.”
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The Trial |
How It Attacks
One out of every 3,500 boys is born with Duchenne muscular dystrophy, also known as DMD. It is one of the most common forms of muscular dystrophy. Duchenne is a mutation that leaves boys without the gene that encodes for dystrophin protein. The lack of dystrophin causes muscles to deteriorate.
Patients with Duchenne have trouble moving their hands and arms by their late teens, and it soon becomes difficult to swallow, speak or even breathe without a ventilator.
Until recent improvements in respiratory therapy, patients often died of respiratory failure. Today, most patients die because the disease wears down their heart function.
Definitive Answers
Doctors at Cincinnati Children’s follow about 500 patients with Duchenne. Over the next year, they will be recruiting 40 boys, age 7 and older, to be part of the clinical trial.
In the double-blind, randomized trial, 20 patients will receive a placebo, and 20 patients will receive the study medication. Researchers plan to collect preliminary data within about two years.
Hor’s goal is to come up with definitive answers that will lead to better treatment and stop the disease from killing more kids.
“The most important part about this kind of trial is to help prove that the medication does work to improve the patient’s life by keeping the function normal for a longer period of time,” he says.
Someday, a stem cell transplant may be able to replace abnormal cells and cure kids with Duchenne, Hor says. “In the meantime, we are hoping to keep our patients alive longer so they may have the potential to receive those treatments in the future.”
’Hiccup In Dna’ Leads To Hope For A Cure
All James Steele ever needed to know about muscular dystrophy, he learned watching “The Jerry Lewis MDA Labor Day Telethon” as a kid. That was enough — until he had a son diagnosed with the disorder.
Steele and his wife, Ann Marie, sought help for their son Andrew when he was a preschooler. Andrew was a late walker, and could not run and jump like other kids his age. When he was 6, doctors confirmed he had Duchenne muscular dystrophy, a deadly inherited disorder in boys that progressively destroys the body’s muscles.
“It socks you in the gut pretty hard,” Steele says of the diagnosis. “It was devastating for the entire family. But now it’s something we live with. He’s just a 12-year-old kid with one small hiccup in his DNA.”
Andrew is a boy with a big personality and a sense of purpose. He is a computer whiz and an entertainer who wants an iPhone and the freedom to watch YouTube videos whenever he wants. The seventh-grader sees himself — from the Duchenne perspective — as someone with half his life left to figure out how to “get cured.”
He decided to enroll in a research study at Cincinnati Children’s testing a drug that could stall heart damage.
“I believe one day there just might be a cure,” Andrew says. “I’m that hopeful.”
Hospital visits and blood draws have become part of his routine. He has learned how to do wheelies on the wheelchair he uses to go long distances. Sometimes he looks up his condition on the internet and reads about people with Duchenne’s dying young. He wants to beat the odds.
“Even though I have this dreaded disease, I still live happily,” says Andrew, a movie buff who likes to recite his favorite lines. “My favorite quote is from ‘Back to the Future.’ It goes: ‘If you put your mind to it, you can accomplish anything.’ ”
