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Rochester leads international effort to improve muscular dystrophy treatment
Date:9/3/2010

thing with a ventilator while they are teenagers.

About two-thirds of cases occur in families with a history of the disease the genetic flaw responsible is passed from mother to son but about one-third of cases occur spontaneously. That's because the disease's roots lie in a genetic flaw in the massive gene responsible for making a protein known as dystrophin, which helps make and keep muscles strong and stable. Weighing in at 2 million chemical bases, the gene is the biggest in the human body, and mutations are relatively frequent. In patients with a mutation, the body does not make enough dystrophin, and muscle fibers are gradually replaced with fat and other tissue.

In a study more than 20 years ago, in studies supported by the Muscular Dystrophy Association, Griggs and colleagues found that a daily dose of prednisone improves patients' lives dramatically. Yet Griggs has found that the treatment for Duchenne muscular dystrophy is chaotic because of concern about side effects. In a recent survey of more than 100 centers worldwide that specialize in treatment of the disease, only three were consistently using the recommended treatment a daily dose of prednisone. Others were using prednisone intermittently or were using deflazacort; 10 weren't using steroids at all.

In the new study, patients will be randomly assigned to receive one of three steroid treatments: a) prednisone every day; b) prednisone every day for 10 days, alternating with 10-day periods without the drug; c) daily use of a steroid known as deflazacort, which is approved for use in Europe but not the United States. Neither the patients nor the researchers will be aware of the patients' treatment assignments until the conclusion of the trial.

Doctors have found that daily prednisone boosts muscle strength dramatically and that the effects are felt by patients and witnessed by parents within just 10 days. The drug boosts muscle mass by 20 percent and slows the deg
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Contact: Tom Rickey
tom_rickey@urmc.rochester.edu
585-275-7954
University of Rochester Medical Center
Source:Eurekalert

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