An investigational compound that targets the core symptoms of fragile X syndrome is effective for addressing the social withdrawal and challenging behaviors characteristic of the condition, making it the first such discovery for fragile X syndrome and, potentially, the first for autism spectrum disorder, a study by researchers at Rush University Medical Center and the University of California, Davis MIND Institute has found.
The finding is the result of a clinical trial in adult and pediatric subjects with fragile X syndrome. It suggests, however, that the compound may have treatment implications for at least a portion of the growing population of individuals with autism spectrum disorder, as well as for those with other conditions defined by social deficits. The study is published online today in the journal Science Translational Medicine.
“There are no FDA-approved treatments for fragile X syndrome, and the available options help secondary symptoms but do not effectively address the core impairments in fragile X syndrome,” said Dr. Elizabeth Berry-Kravis, the lead author of the article. “This is the first large-scale study that is based on the molecular understanding of fragile X syndrome and, importantly, suggests that the core symptoms may be amenable to pharmacologic treatment.” Berry-Kravis is professor of pediatrics, neurological sciences and biochemistry at Rush.
The “first-in-patient” drug trial was led by Berry-Kravis and Dr. Randi Hagerman of the UC Davis MIND Institute. It examined the effects of the compound STX 209, also known by the name Arbaclofen. The study was conducted collaboratively with Seaside Theraputics, a Cambridge, Mass., pharmaceutical company, that is focused on translating bench research on fragile X and autism into therapeutic interventions. Seaside Therapeutics produces the compound.
“This study shows that STX 209 is an important part of the treatment for fragile X syndrome, because it improved symptoms in those with significant social deficits or autism as well as fragile X syndrome,” said Hagerman, who is the medical director of the MIND Institute. “Additional studies also are suggesting that STX 209 can be helpful for autism without fragile X syndrome. Until now, there have been no targeted treatments available for autism. This appears to be the first.”
Read the entire news release.