Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

In muscular dystrophy, what matters to patients and doctors can differ

26.07.2012
Complex, multi-system diseases like myotonic dystrophy – the most common adult form of muscular dystrophy – require physicians and patients to identify which symptoms impact quality of life and, consequently, what treatments should take priority.

However, a new study out this month in the journal Neurology reveals that there is often a disconnect between the two groups over which symptoms are more important, a phenomenon that not only impacts 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," said University of Rochester Medical Center (URMC) neurologist Chad Heatwole, M.D., lead author of the study. "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."

Myotonic 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 developed by URMC, Heatwole and his 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 such as fatigue, limited mobility, and sleep problems. Respondents also identified specific symptoms that have the greatest impact on their lives. These included 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," said 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, called a disease-specific patient reported outcome measure is one of many which is being developed for neuromuscular diseases at the URMC by Heatwole and his team and will enable researchers to more precisely measure whether the impact 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 include Nicholas Johnson, M.D., Christine Quinn, M.S., William Martens, Michael McDermott, Ph.D., Charles Thornton, M.D., and Richard Moxley, M.D. with URMC, Rita Bode, Ph.D., Nan Rothrock, Ph.D., and David Victorson, Ph.D. with Northwestern University and Barbara Vickrey, Ph.D. with 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.

Mark Michaud | EurekAlert!
Further information:
http://www.urmc.rochester.edu

More articles from Health and Medicine:

nachricht World first: Massive thrombosis removed during early pregnancy
20.07.2017 | Universitätsspital Bern

nachricht Therapy of preterm birth in sight?
19.07.2017 | Universitätsspital Bern

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Manipulating Electron Spins Without Loss of Information

Physicists have developed a new technique that uses electrical voltages to control the electron spin on a chip. The newly-developed method provides protection from spin decay, meaning that the contained information can be maintained and transmitted over comparatively large distances, as has been demonstrated by a team from the University of Basel’s Department of Physics and the Swiss Nanoscience Institute. The results have been published in Physical Review X.

For several years, researchers have been trying to use the spin of an electron to store and transmit information. The spin of each electron is always coupled...

Im Focus: The proton precisely weighted

What is the mass of a proton? Scientists from Germany and Japan successfully did an important step towards the most exact knowledge of this fundamental constant. By means of precision measurements on a single proton, they could improve the precision by a factor of three and also correct the existing value.

To determine the mass of a single proton still more accurate – a group of physicists led by Klaus Blaum and Sven Sturm of the Max Planck Institute for Nuclear...

Im Focus: On the way to a biological alternative

A bacterial enzyme enables reactions that open up alternatives to key industrial chemical processes

The research team of Prof. Dr. Oliver Einsle at the University of Freiburg's Institute of Biochemistry has long been exploring the functioning of nitrogenase....

Im Focus: The 1 trillion tonne iceberg

Larsen C Ice Shelf rift finally breaks through

A one trillion tonne iceberg - one of the biggest ever recorded -- has calved away from the Larsen C Ice Shelf in Antarctica, after a rift in the ice,...

Im Focus: Laser-cooled ions contribute to better understanding of friction

Physics supports biology: Researchers from PTB have developed a model system to investigate friction phenomena with atomic precision

Friction: what you want from car brakes, otherwise rather a nuisance. In any case, it is useful to know as precisely as possible how friction phenomena arise –...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Closing the Sustainability Circle: Protection of Food with Biobased Materials

21.07.2017 | Event News

»We are bringing Additive Manufacturing to SMEs«

19.07.2017 | Event News

The technology with a feel for feelings

12.07.2017 | Event News

 
Latest News

NASA looks to solar eclipse to help understand Earth's energy system

21.07.2017 | Earth Sciences

Stanford researchers develop a new type of soft, growing robot

21.07.2017 | Power and Electrical Engineering

Vortex photons from electrons in circular motion

21.07.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>