Public release date: 19-Sep-2012 [ | E-mail | Share ]
Contact: Phyllis Brown phyllis.brown@ucdmc.ucdavis.edu 916-734-9023 University of California - Davis Health System
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 the UC Davis MIND Institute and Rush University Medical Center, Chicago, 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. A second study by the manufacturer of the compound is included in the same issue.
The "first-in-patient" drug trial was led by internationally recognized fragile X researchers Elizabeth Berry-Kravis of Rush University Medical Center and 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 Therapeutics, 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, 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."
Fragile X syndrome is the most common known cause of inherited intellectual impairment, formerly referred to as mental retardation, and the leading known single-gene cause of autism. Social impairment is one of the core deficits in both fragile X and autism. The U.S. Centers for Disease Control and Prevention (CDC) estimates that about 1 in 4,000 males and 1 in 6,000 to 8,000 females have the disorder. An estimated 1 in 88 children born today will be diagnosed with autism, according to the CDC.
"There are no Food and Drug Administration-approved treatments for fragile X syndrome, and the available options help secondary symptoms, but do not effectively address the core impairments in fragile X. This is the first large-scale study that is based on the molecular understanding of fragile X and suggests that the core symptoms may be amenable to pharmacologic treatment," said lead study author Elizabeth Berry-Kravis, professor of pediatrics, neurological sciences and biochemistry at Rush University Medical Center.
"This study will help to signal the beginning of a new era of targeted treatments for genetic disorders that have historically been regarded as beyond the reach of pharmacotherapy," Berry-Kravis said. "It will be a model for treatment of autism, intellectual disability and developmental brain disorders based on understanding of dysfunction in brain pathways, as opposed to empiric treatment of symptoms. We hope mechanistically based treatments like STX209 ultimately will be shown to improve cognitive functioning in longer-term trials."
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New targeted drug for treating fragile X syndrome, potentially autism, is effective