Funding to break the research participation barrier in spinocerebellar ataxia

Congratulations to Dr Ian Harding, Department of Neuroscience, for obtaining a Young Investigator grant of USD $50,000 from the National Ataxia Foundation for research on spinocerebellar ataxias.

Spinocerebellar ataxias (SCA) are inherited progressive and life-shortening neurological disorders. People with SCAs experience a wide range of different symptoms, including difficulties with movement coordination, speech, mental function skills like thinking, and managing their emotions. Currently, no treatments exist that stop the disease progression.

Dr Harding said, "Our project has three major goals, each addressing a current major limitation in spinocerebellar ataxia (SCA) research."

First, the study will use simple web-based assessments of hand movements, speech, thinking skills, and mood which can be completed on a computer or tablet from home. "By using web-based platforms, we can remove many barriers to research participation as people can undertake the assessments where they feel comfortable.

"This is critical in rare diseases like SCAs to ensure adequate sample sizes and participation from people of all walks of life.

"Second, our project seeks to define and track not just the movement deficits in people with SCAs, but also cognitive and psychiatric symptoms."

He said that current clinical management focuses largely on movement deficits in SCAs, but increasing evidence and patient testimonials indicate that these other disease features also have a tremendous impact on their quality of life.

"Finally, we will focus not only on the long-term symptom changes that occur over a year or more, but also the short-term variability in symptom severity that occurs on the order of weeks to months.

"Research to date has focused exclusively on the long-term changes that result from neurodegeneration, but understanding the cause and extent of short-term variability is essential to patient care and to account for variability in treatment trial endpoint measures.

"Taken together, we are pioneering a paradigm shift in how behavioural tracking is undertaken in SCAs, with the potential to provide new symptom monitoring tools for use in clinical and research contexts and new insights into symptom expression and variability to inform clinical practice and clinical trial design."