New clinical trial to examine medication to treat social withdrawal in Fragile X and autism

July 20, 2011

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 characterized by impaired social function, cognition and speech, as well as attention deficits and anxiety.

People with Fragile X, autism or often display social impairment including social withdrawal and anxiety and have difficulty communicating and interacting with others. Although there are behavioral and , 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.

The study is sponsored by Seaside Therapeutics, Inc, and will test the efficacy, safety and tolerability of the drug called STX209 (arbaclofen).

Racemic baclofen (mixture of arbaclofen and esbaclofen) is approved by the FDA to treat spasticity and stiff muscles due to cerebral palsy or other forms of brain or spinal cord injury, but arbaclofen, the more active form of baclofen, is not FDA approved.

"There is some evidence that the medication may help with social behaviors in people with developmental disabilities," said Berry-Kravis, who is a professor of pediatrics, neurology and biochemistry at Rush University.

Participants in the randomized, double-blind, placebo controlled phase III trial will be randomized to receive either the study drug, STX209, or a placebo. The clinical trial will include screening, treatment, withdrawal of medication, and a follow-up period. Subjects who complete the study may be eligible to enroll in a subsequent open-label study in which all subjects are treated with STX209.

STX209 has been studied in a previous small placebo-controlled trial in children and adults with and showed evidence of benefit for .

"Previous research has found that from one-quarter to one-half of people with fragile X have autism spectrum disorders," said Berry-Kravis.

"This trial is exciting, because it represents the culmination of 20 years work in fragile X research since discovery of the fragile X gene in 1991," said Kravis. "We're not expecting this to cure fragile X or autism, but it's a very important step in the development of new treatments."

Explore further: Promising new drug being evaluated as possible treatment option for fragile X syndrome

Related Stories

Measuring intellectual disability

June 24, 2009

Researchers from the University of California, Davis have developed a specific and quantitative means of measuring levels of the fragile X mental retardation 1 (FMR1) protein (FMRP), which is mutated in fragile X syndrome. ...

Clinical tests begin on medication to correct Fragile X defect

November 2, 2009

NIH-supported scientists at Seaside Therapeutics in Cambridge, Mass., are beginning a clinical trial of a potential medication designed to correct a central neurochemical defect underlying Fragile X syndrome, the most common ...

Secret funding fosters hope for new drugs for autism

September 15, 2010

Funding from an anonymous wealthy family has been the secret to progress, at long last, in developing drugs that show promise for helping millions of people worldwide with Fragile X syndrome, the most common genetic cause ...

Recommended for you

In sub-Saharan Africa, cancer can be an infectious disease

August 26, 2016

In 1963, Irish surgeon Denis Parson Burkitt airmailed samples of an unusual jaw tumor found in Ugandan children to his colleague, Anthony Epstein, at Middlesex Hospital in London. Epstein, an expert in chicken viruses and ...

Zika virus may persist in the vagina days after infection

August 25, 2016

The Zika virus reproduces in the vaginal tissue of pregnant mice several days after infection, according to a study by Yale researchers. From the genitals, the virus spreads and infects the fetal brain, impairing fetal development. ...

Team discovers how Zika virus causes fetal brain damage

August 24, 2016

Infection by the Zika virus diverts a key protein necessary for neural cell division in the developing human fetus, thereby causing the birth defect microcephaly, a team of Yale scientists reported Aug. 24 in the journal ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.