Adolescents With Fragile X Syndrome Sought For Stanford/Packard Drug Trial

-- Researchers at the Stanford University School of Medicine are recruiting adolescents and young adults with fragile X syndrome to test a novel drug treatment for the inherited developmental disorder. The team is examining whether the drug, donepezil, will reduce behavioral and intellectual disabilities of fragile X, which overlap with the symptoms of autism.

“It’s a very exciting study—for the first time, we're targeting specific brain mechanisms in fragile X syndrome instead of treating individual symptoms,” said Allan Reiss, MD, who leads the research team. Reiss is a professor of psychiatry and behavioral sciences and of radiology at Stanford and a child and adolescent psychiatrist at Lucile Packard Children’s Hospital. He also directs the Center for Interdisciplinary Brain Sciences Research at Stanford.

Fragile X syndrome, a genetic disease transmitted on the X chromosome, affects one in every 2,500 to 4,000 people. It can cause behavior problems, such as hyperactivity, anxiety and aggression, as well as intellectual impairments, such as trouble with arithmetic and with mental manipulation of three-dimensional objects. About half of people with fragile X meet diagnostic criteria for autism.

The new study, funded by a three-year, $720,000 grant from the National Institute of Mental Health, will test whether a drug that has already been FDA-approved for treating Alzheimer’s disease could effectively treat fragile X syndrome. In the past, people with fragile X syndrome may have received medication for specific symptoms such as hyperactivity, but no drugs existed to target their underlying disorder. Based on preliminary data, the researchers want to test whether the study drug, donepezil, will improve learning and behavioral function in those affected by fragile X syndrome by increasing the activity of cholinergic neurotransmission, a brain signaling system that appears to malfunction in the disease.

For the 12-week trial, the research team is recruiting 50 people ages 12 to 21 who have been diagnosed with fragile X syndrome. Those who are eligible for the study will receive two days of behavioral and cognitive testing on the Stanford campus at the beginning of the trial, as well as an optional MRI brain scan. The testing will be repeated at the end of the trial. Participants will be randomly assigned to receive donepezil or a placebo throughout the trial. Each participant will be paid $100 for completing the trial, and will have all expenses for traveling to Stanford reimbursed.

If the drug improves fragile X symptoms in this trial, the research team hopes to propose a large, multicenter, phase-3 drug trial to confirm and extend the findings.

To obtain more information or to participate in the trial, contact the project coordinator, Mai Manchanda, by e-mail at or by phone at (650) 704-9763.



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