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 Biofilm discovery suggests new way to prevent dangerous infections
23.05.2017 | University of Texas at Austin

nachricht Another reason to exercise: Burning bone fat -- a key to better bone health
19.05.2017 | University of North Carolina Health Care

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: Can the immune system be boosted against Staphylococcus aureus by delivery of messenger RNA?

Staphylococcus aureus is a feared pathogen (MRSA, multi-resistant S. aureus) due to frequent resistances against many antibiotics, especially in hospital infections. Researchers at the Paul-Ehrlich-Institut have identified immunological processes that prevent a successful immune response directed against the pathogenic agent. The delivery of bacterial proteins with RNA adjuvant or messenger RNA (mRNA) into immune cells allows the re-direction of the immune response towards an active defense against S. aureus. This could be of significant importance for the development of an effective vaccine. PLOS Pathogens has published these research results online on 25 May 2017.

Staphylococcus aureus (S. aureus) is a bacterium that colonizes by far more than half of the skin and the mucosa of adults, usually without causing infections....

Im Focus: A quantum walk of photons

Physicists from the University of Würzburg are capable of generating identical looking single light particles at the push of a button. Two new studies now demonstrate the potential this method holds.

The quantum computer has fuelled the imagination of scientists for decades: It is based on fundamentally different phenomena than a conventional computer....

Im Focus: Turmoil in sluggish electrons’ existence

An international team of physicists has monitored the scattering behaviour of electrons in a non-conducting material in real-time. Their insights could be beneficial for radiotherapy.

We can refer to electrons in non-conducting materials as ‘sluggish’. Typically, they remain fixed in a location, deep inside an atomic composite. It is hence...

Im Focus: Wafer-thin Magnetic Materials Developed for Future Quantum Technologies

Two-dimensional magnetic structures are regarded as a promising material for new types of data storage, since the magnetic properties of individual molecular building blocks can be investigated and modified. For the first time, researchers have now produced a wafer-thin ferrimagnet, in which molecules with different magnetic centers arrange themselves on a gold surface to form a checkerboard pattern. Scientists at the Swiss Nanoscience Institute at the University of Basel and the Paul Scherrer Institute published their findings in the journal Nature Communications.

Ferrimagnets are composed of two centers which are magnetized at different strengths and point in opposing directions. Two-dimensional, quasi-flat ferrimagnets...

Im Focus: World's thinnest hologram paves path to new 3-D world

Nano-hologram paves way for integration of 3-D holography into everyday electronics

An Australian-Chinese research team has created the world's thinnest hologram, paving the way towards the integration of 3D holography into everyday...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Marine Conservation: IASS Contributes to UN Ocean Conference in New York on 5-9 June

24.05.2017 | Event News

AWK Aachen Machine Tool Colloquium 2017: Internet of Production for Agile Enterprises

23.05.2017 | Event News

Dortmund MST Conference presents Individualized Healthcare Solutions with micro and nanotechnology

22.05.2017 | Event News

 
Latest News

How herpesviruses win the footrace against the immune system

26.05.2017 | Life Sciences

Water forms 'spine of hydration' around DNA, group finds

26.05.2017 | Life Sciences

First Juno science results supported by University of Leicester's Jupiter 'forecast'

26.05.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>