Three internationally respected UC Davis researchers — two expert in fragile X syndrome and one in epilepsy — have joined forces to test the efficacy of an innovative new approach to treating children with fragile X, through a $3 million grant from the U.S. Congress.
The researchers will explore the safety and effectiveness of a synthetic neuroactive steroid drug, ganaxolone, for treating the anxiety that is common in children with fragile X, a condition that is the leading cause worldwide of inherited intellectual disability and the most common single-gene cause of autism. The collaboration includes Randi Hagerman, an international authority on fragile X-related disorders, Michael Rogawski, known worldwide for his epilepsy research, and David Hessl, an expert in psychophysiologic studies.
“We believe that this drug will be highly effective for treating the anxiety, inattention and impulsivity in children with the full fragile X syndrome mutation,” said Hagerman, who is medical director of the UC Davis MIND Institute and treats people with fragile X syndrome. "This compound opens up a whole new avenue of treatment for people with fragile X.”
Fragile X syndrome is the result of a defect on the X chromosome. It is estimated to affect 1 in 3,600 males and 1 in 4,000 females. One-third of all children with fragile X syndrome develop autism and approximately 5 percent of children with an autism-spectrum disorder have fragile X.
“In fragile X syndrome, in addition to the intellectual disability, there is a range of learning disabilities and other neurological problems such as seizures,” said Rogawski, who is chair of the UC Davis neurology department. “Ganaxolone originally was developed to treat epilepsy and has anti-seizure and anti-anxiety properties.”
For the study, the researchers will enroll 60 children between the ages of 6 and 17 years over a four-year period. Participants initially will receive either ganaxolone or a placebo and then after six weeks will receive the opposite medication, ganaxolone or a placebo. The effects will be studied through a variety of tests and outcome measures, including eye-tracking to determine children’s ability to make eye contact and levels of hyperactivity. The drug will be provided by Marinus Pharmaceuticals.
Funding for the study is provided by the Department of Defense Peer-Reviewed Medical Research Program of the Congressionally Directed Medical Research Program.