(Republished with permission from the St. Louis Post-Dispatch. This article originally ran in the Health & Fitness section on Monday, Sept. 4, 2006.)
By Kay Quinn
A foot in the door.
That’s what Dr. Alan Pestronk, director of the Neuromuscular Clinical Laboratory at Washington University School of Medicine, calls the first drug approved to treat a deadly form of muscle disease in children.
Pompe disease, also called acid maltase deficiency, is the result of a genetic mutation. People with this form of muscular dystrophy are missing an enzyme essential for processing glycogen. Glycogen, a substance made up of sugars, is stored in the liver and muscles for the body to use during exercise.
In the infantile form of Pompe, glycogen accumulates in the liver and heart, damaging muscles and other tissue. Children typically die of organ failure before age 5.
Adults who develop late-onset Pompe experience muscle weakness, difficulty breathing and a shorter life expectancy. Until last spring, no formal treatment existed.
But in April, the Food and Drug Administration approved the first drug for young patients with Pompe. Myozyme, which is given intravenously, replaces the missing enzyme, and it has increased children’s survival rates.
Now Pestronk and his colleagues are testing Myozyme in adults with Pompe.
For Greg Shoemaker, 45, of Blue Springs, Mo., the Myozyme trial is exactly what he had hoped. The father of two was diagnosed in his early 30s after noticing he could no longer hit a golf ball very far.
“It kind of scared me because the disease for adults affects the respiratory system,” Shoemaker said, “and eventually leads to some sort of breathing assistance.”
He’s one of 12 Pompe sufferers in the Midwest to enroll in the Myozyme study. He doesn’t know whether he’s getting the actual drug or a placebo, but Shoemaker said he has more energy and hasn’t had any side effects.
Shoemaker knows the drug is not a cure, but it represents the promise of the future for him.
“Hope is one of the few things that you really can look toward, and I have hope for this drug,” he said.
So does Pestronk.
“It’s a whole new area that’s showing promise, and there are other patients with other diseases just like this,” Pestronk said. “This is like our foot in the door. We’re hopeful there will be even more in the future.”
Much of the research done at Pestronk’s laboratory is funded by the Jerry Lewis MDA Labor Day Telethon, under way across the country today.
Kay Quinn is an anchorwoman and reporter at KSDK (Channel 5).
Copyright 2006 St. Louis Post-Dispatch, Inc.