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.



About Stanford Children’s Health and Lucile Packard Children’s Hospital Stanford

Stanford Children’s Health, with Lucile Packard Children’s Hospital at its core, is the Bay Area’s largest health care enterprise exclusively dedicated to children and expectant mothers. As the top-ranked children’s hospital in Northern California, and one of just 11 nationwide to be named on the 2016-17 U.S. News & World Report Best Children’s Hospitals Honor Roll, Packard Children’s Hospital is a leader in world-class, nurturing care and extraordinary outcomes in every pediatric and obstetric specialty. Stanford Children’s Health offers care ranging from the routine to rare, regardless of a family’s ability to pay. Together with Stanford Medicine physicians, nurses, and staff, Stanford Children’s Health can be accessed through partnerships, collaborations, outreach, specialty clinics and primary care practices at more than 60 locations across Northern California and 100 locations in the U.S. western region. As a non-profit, Stanford Children’s Health is committed to supporting the community – from caring for uninsured or underinsured kids, homeless teens and pregnant moms, to training the next generation of doctors and medical professionals. Celebrating the 25th anniversary of Lucile Packard Children’s Hospital in 2016, Stanford Children’s Health looks forward to the fall 2017 debut of its expanded pediatric and obstetric hospital campus. Discover more at and on the Healthier, Happy Lives blog. Join Stanford Children’s Health on Facebook, Twitter, LinkedIn and YouTube.


About Stanford University School of Medicine

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