Pompe's Disease: Muscular Dystrophy Treatment

Patients with a rare form of muscular dystrophy are banking their hopes on a new drug which has been shown to be highly effective at stopping--and reversing--the devastating effects of the disease. The disease is called Pompe’s syndrome. It is deadly in kids, and in adults it causes a gradual deterioration. Now, though, a new treatment giving back the missing muscle enzymes has just been FDA approved today. It means a lifesaving, or life-renewing opportunity for those suffering.

“I have about 25% breathing capacity than I should have. Just walking around the mall, it’s just, it becomes strenuous.” Brian white still travels on business…but it’s becoming more and more difficult. He was diagnosed with Pompe’s disease--a rare and often fatal nerve and muscle disorder caused by the lack of an enzyme which breaks down glycogen--a sugar. The glycogen deposits in the muscle fibers instead, and destroys them.

 “The hardest thing that’s really, that I had to deal with is the fact that I lived 37 years of my life as a normal person, um I mean I had kids, I played sports. All of a sudden five years ago symptoms start coming up and all of a sudden your life has changes dramatically. We’ve been think about down the road even do things like move into a house that’s one level because steps are difficult now,” says Brian.

In adults it can have a varying course. In kids, it’s deadly. But Megan Assink, who’s now four, has had a very different course than her older sister kelsey. Kelsey died from Pompe’s. Megan, whose heart was failing, is now doing great, thanks to the fact she has received the drug Myozyme as a participant in a clinical trial.

Dr. Barry Byrne, a Pompe researcher at the University of Florida, says, “That study in infants which is the most severe form of the disease had the most striking result really I think in some ways unprecedented for a disease that had almost uniform fatality by a year of age, all the patients in that study where a live by the end of the study.” Myozyme replaces the missing enzyme, halting the muscle destruction, and allowing them to return to normal. The drug was just approved today by the FDA.

 “This is actually the first biotechnology product that is designed specifically for the cause of this problem,” says Dr. Byrne Myozyme is arguably the farthest researchers have gotten in developing such a remarkable treatment for a muscular dystrophy. And it happened over a relatively short time frame. “It has really only been ten years and that is actually very fast for a drug development program,” says Dr. Byrne.

Brian is hoping he’ll get the drug soon. “Well I mean hopefully, it would stop the progression, even that would be great. I think they are hopeful that it will get rid of some of the glycogen and let your muscles regenerate. It’s a ray of hope that we didn’t have 2 years ago.”

The drug is given by intravenous infusion twice a month. One thing that’s not discussed is the expense; treatment with enzyme replacement therapies can run into the hundreds of thousands of dollars a year for each patient. But the company making the drug, Genzyme, says, if it’s not covered, it will provide the medicine to those who need it.

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