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What's Going On in Dystonia Research?

Progress Continues in Treatments, Gene Discovery and Advancing the Science

In the last quarter of each year, the DMRF invites investigators to submit applications for dystonia research funding. Recent grant cycles have generated more proposals than ever before, and the field of dystonia has never been more active. There are numerous reasons to feel inspired and hopeful about how research is progressing.

Greater Interest from Researchers

More investigators and clinicians are interested in dystonia, participating in the research, and joining the effort to find better treatments and a cure. Commenting on the 5th International Dystonia Symposium in late 2011, DMRF Science Officer Jan Teller, MA, PhD acknowledges some of the challenges of advancing research for a rare disorder like dystonia: “I would periodically get this uneasy feeling,” he explains, “that dystonia would be perpetually overshadowed by the ‘big’ neurological diseases—that research on dystonia was too scattered across the globe, across different institutions, that there was not enough momentum. But I was wrong.” The Symposium represented the latest in a series of international dystonia meetings organized by the DMRF since 1975. The meeting attracted 560 dystonia clinicians and researchers from 38 countries—unprecedented numbers. The interest is so great that the DMRF is considering organizing the next Symposium in 2015.

Pursuing Drug Targets

The DMRF is working with BioFocus, a biotechnology company, to identify new drug targets. These efforts may ultimately lead to a whole new generation of dystonia therapies that interrupt or alleviate dystonia at the cellular level. The project has successfully progressed through the first two stages, identifying several potential targets. While no one cannot predict where these results will lead, this development is very encouraging. The next step is to validate and confirm the preliminary data. The DMRF is partnering with Tyler’s Hope for a Dystonia Cure in this effort.

Every Dystonia Gene is a Potential Therapeutic Target

Over 20 genes or gene markers are associated with certain forms of dystonia, and advancing technology is leading to new genes being discovered at a rapid rate. Every time a gene is associated with dystonia (there are currently 12), this provides an important clue about how dystonia impacts the nervous system and may ultimately lead to symptoms. Each gene discovery provides a protein that is a potential new therapeutic target. Every therapeutic target is one step closer to a brand new approach to treatment.

New Stimulation Methods

In addition to deep brain stimulation, other therapeutic stimulation methods such as cerebellar and premotor cortical stimulation are under investigation. This is the direct result of a growing understanding of how specific brain areas are involved in dystonia. “None of us think of dystonia as just a basal ganglia disorder anymore,” explains Scientific Director Mahlon DeLong, MD of Emory University School of Medicine. “Dystonia is a network disorder—much more complex.” Research is demonstrating that in addition to the basal ganglia, other areas of the brain are implicated in many cases of dystonia including the cerebellum, motor cortex, thalamus, and corpus callosum. Each of these brain structures represents an area for investigating new therapeutic approaches, and simultaneous advances in neurostimulation are presenting opportunities for less invasive techniques.

Making Treatments Work for More People

Research is not solely focused on discovering new treatments. There is a widespread effort among clinicians to make existing treatments benefit greater numbers of patients. Meticulous attention is being paid to how patients respond—and why some respond better than others—to certain medications, botulinum neurotoxin injections, deep brain stimulation, and other methods. There are ongoing studies aimed at minimizing side effects of medications, and a greater selection of botulinum neurotoxin products available. Deep brain stimulation is gradually and conscientiously being applied to treat not only primary generalized dystonias but also secondary dystonias, certain focal dystonias, and others with positive results.

Next Generation of Dystonia Leaders

The DMRF is committed to helping young investigators establish and pursue careers in dystonia. Dr. Teller explains: “Young investigators are critical to the future of the field by providing fresh ideas and new initiatives that lead to important discoveries.” The DMRF creates numerous opportunities—through research funding and scientific meetings—for young investigators to interact with established dystonia experts who often become role models and source of continuous inspiration.

From Research to Real Life

Dystonia science efforts aim at improving people’s lives, both in terms of individual treatment and overall quality of life. Two projects that are part of the Dystonia Coalition involve establishing rating scales that measure dystonia symptoms: one scale for cervical dystonia and one for spasmodic dysphonia.

Rating scales are particularly useful because they measure the impact of the disorder on a person’s life in very specific terms such as driving, reading, and activities of daily living as well as the impact of pain, mobility, depression, and anxiety.

Rating scales are also essential to accurately and consistently measuring benefit to therapies, in both healthcare and research settings. The DMRF is playing a significant role in the development of the cervical dystonia rating scale by working closely with lead investigator Cynthia Comella, MD and subcontracting with the clinical sites.

For more information on the DMRF’s science activities, please visit: http://www.dystoniafoundation.org/research

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