Dr. Elizabeth Berry-Kravis
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.
Dr. Elizabeth Berry-Kravis
Children and adults with social withdrawal due to Fragile X syndrome, the most common cause of inherited intellectual disability and the most common known single gene cause of autism, may benefit from an experimental drug under study by pediatric neurologists at Rush Children’s Hospital at Rush University Medical Center.
Rush is the only site in Illinois and one of 21 hospitals in the U.S. participating in the trial for Fragile X. Fragile X syndrome is a neurodevelopmental disorder characterized by impaired social function, cognition and speech, as well as attention deficits and anxiety.
People with Fragile X, autism or autism spectrum disorders often display social impairment including social withdrawal and anxiety and have difficulty communicating and interacting with others. Although there are behavioral and psychological interventions, there are no approved medications for the treatment of social or communication difficulties in Fragile X, autism and autism spectrum disorders.
The condition can be severely debilitating and this medication has the potential to play a much needed role in improving the core symptoms of Fragile X syndrome and helping patients and their families achieve an improved quality of life,” said Dr. Elizabeth Berry-Kravis, pediatric neurologist at Rush and principal investigator of the study.
Read the entire news release.
A study, that researchers at Rush helped design, found a new drug shows some promise in treating Fragile X.
Fragile X is an inherited brain disorder that can cause a range of impairment from learning disabilities to more severe congitive and intellectual disabilities.
In individuals with Fragile X syndrome (FXS), the fragile X gene (FMR1) is turned off, so the fragile X protein (FMRP) is not made. Absence of FMRP in the brain produces the learning and behavior problems seen in individuals with FXS. One of the pathways that is regulated incorrectly and is overactive in Fragile X is a glutamate pathway called the mGluR pathway. The new drug is designed to block the activity of mGluR.
The research found that patients who had a fully methylated gene, a gene that was fully shut down, showed significant improvement in behavior, hyperactivity and inappropriate speech with the treatment compared to placebo.
According to pediatric neurologist Dr. Elizabeth Berry-Kravis, a study author and director of the Fragile X Clinic at Rush, this is an exciting development.
It is the first time we have a treatment targeted to the underlying disorder, as opposed to supportive treatment of the behavorial symptoms, in a developmental brain disorder causing intellectual disability. This drug could be a model for treatment of other disorders such as autism,” said Berry-Kravis.
A larger study of the drug is now underway that will test the effects of a longer period of treatment. Rush is one of the participating sites.
Read the press release.
Visit the Fragile X Clinic website.