A five-year $6 million clinical trial, funded by the National Institute of Neurological Disorders and Stroke is due to focus on therapies for people with spinocerebellar ataxia (SCA), a rare, inherited neurologic disease.
SCA is a progressive, fatal genetic disease characterized by problems with coordination, including balance, speech, and eye movements. A loss of neurons in the cerebellum—a region of the brain that coordinates and regulates muscular activity—causes uncontrollable movement. SCA progression and severity is depends on the type; SCA1 progresses more quickly than other types, but SCA3 is the most common type in the United States.
To plan for future clinical trials and to determine the efficacy of SCA therapies, Tetsuo Ashizawa, MD, a neuroscientist at Houston Methodist, and the lead investigator will work with American and European researchers to identify patients between 18 and 65 years old, who carry the genetic mutation, but do not have symptoms, or who are in the early stages of SCA1 or SCA3. The researchers theorize that this population is more likely to respond to interventions before experiencing irreversible brain damage.
Over the next five years in an estimated 20 locations in the United States and two in Europe, researchers hope to create the world's largest cohort of patients with early SCA1 and SCA3. A large sample size will help determine which drugs are clinically significant and allow researchers to detect the disease earlier.
Studying rare diseases, like inherited ataxias, can lead to a better understanding of more common diseases with similar symptoms, such as Huntington's disease, Parkinson's disease, and amyotrophic lateral sclerosis, according to researchers.
Visit Houston Methodist's "Research & Clinical Trials" to learn more or to participate in the process.