Several potential disease-modifying strategies are entering early clinical trials of safety and effectiveness in Huntington's disease (HD). Studies have demonstrated that significant damage in the brain is present many years before symptoms appear, so it is highly probable that these strategies will be most effective if administered in the early or even asymptomatic stage, before extensive damage has occurred. Oculomotor (eye movement) assessments of HD participants have produced results that could address this important unmet need. The first is that such patients, many years from their first clinical symptoms, display a profound deficit in a specific type of eye movement, optokinetic nystagmus (OKN). OKN is a reflexive oscillatory eye movement in response to a moving visual pattern, comprising a tracking of the moving visual field followed by a resetting saccade. We have found that OKN is grossly abnormal and, in some patients, almost entirely absent. Further studies have demonstrated that there is an underlying deficit in motion perception. Visual feedback is essential for good postural stability, and patients with HD are known to have difficulties with posture/balance and are more prone to falls. A greater understanding of these deficits can have a direct impact on assessment and treatment in HD and potentially serve as a biomarker for HD onset and progression. To be effective, treatment should be started prior to the onset of clinically noticeable symptoms. An oculomotor training paradigm may serve as an intervention that could be carried out in the home using telehealth or remote monitoring of patients with HD, as well as those at risk for HD. Beyond the quality of life benefits, large Pharma companies and academic researchers have been searching for just such an early symptom that could be used in pre-clinical and clinical patients to assess the impact of putative treatments or other interventions in clinical trials.
This research is being done to examine eye movement changes and visual feedback errors related to Huntington’s disease. Study procedures for this research are the completion of a series of computer tests where you will where special glasses that allow us to record your eye movements. Standing balance measurements with sensors that are attached to your shirt at your waist and chest. Completion of a brief questionnaire about your experience during testing. The most likely risks to you of the research are fatigue from standing and completing the computer testing. This would be a one-time visit of two hours.
To learn more and inquire about participation, please contact Lisa Muratori, PT, EdD at 631-444-6583 or lisa.muratori@stonybrookmedicine.edu.