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This disconnect not only affects patient care but also the direction of research into new therapies.

“In order to design better therapies we must first develop a clear understanding of what patients think are the key mental and physical burdens of this disease,” says Chad Heatwole, assistant professor of neurology at the University of  Rochester Medical Center and lead author of the study published in the journal Neurology .

“It is clear from this study that, in the case of myotonic dystrophy, researchers have not always been concentrating on the symptoms that are most important to the patient,” adds Heatwole.

Myotonic dystrophy—the most common adult form of muscular dystrophy—has been characterized as one of the most diverse and complex genetic diseases with a wide range of symptoms ranging from fatigue, muscle weakness, cognitive impairment, depression, difficulty sleeping, impaired vision, pain, difficulty swallowing, gastrointestinal problems, and myotonia, the inability to relax muscles after contraction—such as when clenching a fist—that is the hallmark of the disease. The severity and onset of these symptoms can vary from patient to patient.

As a result, physicians and patients are often confronted with a bewildering array of treatment options and researchers have previously had no comprehensive method to measure the meaningful impact of experimental therapies. Further impetus for a patient-centered approach has come from a recent push by the federal Food and Drug Administration to require that new drugs take into account what outcomes patients feel are important.

Using a national database of muscular dystrophy patients, Heatwole and colleagues surveyed 278 people with myotonic dystrophy type-1.  They asked them not only which symptoms they were experiencing, but which ones have the most impact on their lives. Answers were cross referenced with the respondent’s age and a genetic measure—called CTG repeat length—that roughly correlates with the severity of the disease.

The study revealed that certain symptoms like myotonia, which are experienced by more than 90 percent of individuals with the disease, are less important to patients than symptoms such as fatigue, limited mobility, and sleep problems. Respondents also identified specific symptoms that have the greatest impact on their lives, including difficulty having children, not being able to stay in the standing position, and difficulty holding down a job.

“One of the more surprising results is that myotonia—the condition that gives the disease its name—is down the list of things that patients feel most affect their daily lives,” says Heatwole. “These insights will not only have important implications for how patients are treated, but also how new therapies for the disease are evaluated by building better outcome measures.”

Using this data, Heatwole and his colleagues have developed a questionnaire for myotonic dystrophy patients that weights patient responses based on their study findings.

The questionnaire is one of many being developed for neuromuscular diseases by Heatwole and his team designed to more precisely measure whether the effects of experimental therapies is meaningful to patients. The myotonic dystrophy outcome measure is already being used in two clinical trials at the University of Rochester.

Additional co-authors are from Northwestern University and the University of California Los Angeles. Funding for the study was provided by the National Institute of Arthritics and Muskuloskeletal and Skin Disorders, the Wellstone Muscular Dystrophy Cooperative Research Center, the Muscular Dystrophy Association, the New York State Empire Clinical Research Investigator Program, the Saunders Family Fund, and the University of Rochester Clinical and Translational Science Institute.

More news from University of Rochester: www.rochester.edu/news