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NIH Renews Funding for Rochester Muscular Dystrophy Registry

Wednesday, December 07, 2005

Richard Moxley III, M.D., professor of neurology

The University of Rochester Medical Center will receive $1.8 million from the National Institutes of Health to continue the groundbreaking work of a registry of patients who have been diagnosed with the two most common types of adult muscular dystrophy.

More than 1,000 people have enrolled since the national registry was established at the Medical Center almost five years ago, making it one of the largest databases of dystrophy patients in the country. The participants, who fill out questionnaires, furnish medical records and update their information annually, have provided new insights into the symptoms and progression of myotonic dystrophy (DM) and facioscapulohumeral dystrophy (FSHD).

“This is cutting-edge knowledge that allows us to better understand the burdens of the disease,” said Richard Moxley III, M.D., a professor of neurology at the Medical Center and lead investigator for the registry. “The registry has given us a population of patients enthusiastic about learning how to manage their care and who are poised to participate when we are ready to move forward with a definitive treatment.”

Funding from the National Institute of Arthritis and Musculoskeletal and Skin Disease and the National Institute of Neurological Disorders and Stroke will support the registry until 2010.

“The long-term data from the registry will detail time-linked changes of disease manifestations,” Moxley said. “That kind of information does not exist anywhere.”

Muscular dystrophy is a group of rare inherited diseases. The two included for the registry are the most common and cause progressive and disabling weakness. People with the diseases, however, often exhibit different levels of severity and progression.

The registry, which has enrolled patients from all 50 states, provides a central place for patients to learn about current research projects and about their prospects for taking part. The registry is available to doctors around the nation, creating more opportunities for research and helping to better characterize the effects of the diseases.

In one study of patients in the registry with myotonic dystrophy, for example, researchers found that 55 percent needed assistive devices, such as a walker or leg brace, 54 percent reported excessive sleeping and almost 40 percent had gastrointestinal reflux or constipation. More than 50 percent also said they had lost their job or had been forced to retire or go on disability.

“The diseases are poorly understood by most internists and many neurologists,” Moxley said. “The information gathered through the registry will help clinicians as well as researchers.”

MedicalCenter researchers plan several studies that will use the resources of the registry. For example, they will work with scientists at the National Cancer Institute to evaluate whether the genetic instability of the diseases increases a patient's risk for cancer.  New drugs used to treat the diseases have been associated with increased cancer risks, making it particularly important to study the prevalence of cancer.

Research using the registry also includes a study of the impact of exercise and an investigation of excessive sleepiness, a common and often disabling effect of the diseases. Other important research involves measuring quality of life issues among the patients on the registry. Medical Center researchers may work with the Patient Reported Outcomes Measurement Information System (PROMIS), a network of researchers funded by the NIH who use computer-based testing technology to study quality of life issues, such as pain, fatigue and emotional distress.

Moxley is the principal investigator for the registry. Charles Thornton, M.D., professor of neurology, and Rabi Tawil, M.D., professor of neurology, are co-investigators. Hundreds of dystrophy patients, including several from foreign countries, come to the Medical Center from around the world to be treated by Moxley and his colleagues.

Information about the National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients can be found on the Web at Those who would like to participate can call toll free at 888-925-4302 or in the Rochester area at 585-506-0004.

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