University Named Home to Muscular Dystrophy Registry

January 12, 2001

The University of Rochester Medical Center has been named the home for a new registry of patients who have been diagnosed with the two most common types of adult muscular dystrophy. The registry is being established by the National Institutes of Health to help physicians learn more about the disease and to spur new research.

Neurologist Richard Moxley III, M.D., director of the Neuromuscular Disease Center at Strong Memorial Hospital, is the lead investigator for the registry. The listing will include medical and family information about patients around the nation who have either myotonic dystrophy (MD) or facioscapulohumeral dystrophy (FSHD) and who have volunteered to take part and given their consent. That information will be available to physicians and other researchers who study muscular dystrophy.

The registry will provide one central place for patients to learn about current research projects and about their prospects for taking part. The system will also be available to doctors around the nation, opening the doors for more researchers to learn about the diseases and contribute their knowledge toward better treatment. Doctors with an interest in the disease but in a region without many patients will be able to study the disease more thoroughly than ever before. Researchers will submit protocols that will be reviewed by the registry's scientific advisory committee before any information about registry participants is released.

While there are many forms of muscular dystrophy, the two included in the registry are the most common and cause progressive, disabling weakness. Both are inherited diseases, but how the genetic defects play out to affect people's lives is still a mystery. The same flaw that results in mild symptoms in one family becomes a virulent form of the disease in another; some patients with the genetic defect never show any symptoms of the disease at all.

"We have a lot to learn about these diseases," says Moxley. "There are still many mysteries about how defects in genes result in the disease we see in patients. We need to leapfrog from our molecular understanding of the disease to make that knowledge more useful in preventing the disease and treating patients who have it. Establishing this registry is an important step in that direction."

Physicians hope to recruit approximately 850 patients with myotonic dystrophy and 450 patients with facioscapulohumeral dystrophy from around the nation. Including family members of the patients, the registry is expected to include several thousand people. The more patients and family members who take part, the greater the chances that researchers will be able to understand how family history, environmental influences, and other factors account for the variety of symptoms they see in patients. For instance, in myotonic dystrophy, some patients get cataracts while others have heart defects; some have problems with sleep, while others have problems with digestion. By studying family genetics and the symptoms of hundreds of patients and their families, physicians will have a better chance than ever before of untangling the molecular circuitry involved.

"For patients, this is an opportunity to help us understand the disease better," Moxley says. "For some, it may present an opportunity for themselves or a relative to participate in the research trial of a new treatment. It coordinates the efforts of so many researchers working on new treatments."

The University, with one of the most renowned programs in the world for the treatment of neuromuscular diseases, was a natural choice to lead the registry. Currently more than 600 patients at the University are involved in research studies for muscular dystrophy, and hundreds more receive treatment, including several who travel specifically to the Medical Center from around the world to be treated by Moxley and his colleagues.

University faculty from the Neuromuscular Disease Center, who will be working on the registry, have also made great strides on the research side. Charles Thornton, M.D., recently developed a mouse model for myotonic dystrophy. Rabi Tawil, M.D., and colleagues have completed several clinical trials in patients with FSHD, and a team of investigators led by Denise Figlewicz, Ph.D., professor of neurobiology and anatomy, has recently developed the most definitive blood test that exists for FSHD. Six years ago, Moxley and Thornton, along with colleagues from the University and from Germany, discovered a new type of dystrophy now known as proximal myotonic dystrophy.

Patient enrollment in the registry is scheduled to begin in the fall. Patients or family members interested in taking part should call Lynn Cos at 275-7680.

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