Children and adults with social withdrawal due to Fragile X syndrome, the most common known genetic cause of autism, may benefit from an experimental drug being studied by a pediatric neurologist at Rush University Medical Center.
Rush is the only site in Illinois and one of 21 hospitals in the U.S. participating in the clinical trial, which will test the effectiveness, safety and tolerability of the drug arbaclofen. A small trial previously conducted on arbaclofen in children and adults with Fragile X showed evidence of benefit for social withdrawal.
Fragile X and Autism
Fragile X can cause autism
, but not everyone with Fragile X will develop autism. Fragile X is the cause of between 2 and 6 percent of autism cases, according to the National Fragile X Foundation.
People with Fragile X or autism often display social impairment, including social withdrawal and anxiety, and have difficulty communicating and interacting with others. Though there are behavioral and psychological interventions for such patients, there are no approved medications for the treatment of their social or communication difficulties.
"The condition can be severely debilitating, and this medication has the potential to play a much-needed role in improving the symptoms of Fragile X syndrome, and in helping patients and their families achieve an improved quality of life," says Elizabeth Berry-Kravis, MD, PhD, a pediatric neurologist at Rush and the principal investigator in the study.
An Important Step
Arbaclofen is already being used as part of a mixture in an FDA-approved drug called racemic baclofen, which is used to treat spasticity and stiff muscles due to cerebral palsy, and other forms of brain or spinal cord injury. Arbaclofen alone, however, is not FDA-approved.
Participants in the Fragile X phase III trial — the stage intended to be a definitive assessment of how effective a treatment is — will receive either the study drug, arbaclofen, or a placebo. The clinical trial will include screening, treatment and a follow-up period. Subjects who complete the study may be eligible to enroll in a subsequent study in which all subjects are treated with arbaclofen.
"This trial is exciting because the drug is thought to work on underlying brain mechanisms in Fragile X, and it has been made possible by the 20 years' work in Fragile X research since the discovery of the Fragile X gene in 1991," Berry-Kravis says. "We're not expecting this to cure Fragile X or autism, but it's a very important step in the development of new treatments."
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Please note: All physicians featured in Discover Rush Online are on the medical faculty of Rush University Medical Center. Some of the physicians featured are in private practice and, as independent practitioners, are not agents or employees of Rush University Medical Center.
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