One of nine U.S. sites to study investigational drug
The University of Nebraska Medical Center has been selected to participate in clinical trials looking at an experimental drug for people with fragile X syndrome, the most common inherited cause of mental retardation.
Only nine sites in the United States and one in Canada were selected for the Phase IIb study on the drug known as AFQ056. There are a few sites in Europe and one in Australia. The drug is manufactured by Novartis, a Swiss pharmaceutical company.
UNMC is participating in both the clinical trial for adults (ages 19 to 45) and for adolescents (ages 12 to 17). Mark Fleisher, M.D., professor, department of psychiatry, is the principal investigator on the adult clinical trial. Joan Daughton, M.D., assistant professor, psychiatry, is the principal investigator on the adolescent clinical trial. Screening for enrollment in both the adult and adolescent trials is underway.
The study is trying to determine the safety, efficacy, and optimal dosing of the study drug in what is called a randomized, double-blind, placebo-controlled, parallel group design. A double-blind study means that none of the participants or researchers will know whether the subject is given either a placebo (no active medicine) or a certain dose of the experimental drug.
Fragile X syndrome occurs in approximately one in 4,000 to 5,000 individuals. It’s estimated that about 30 percent of individuals with fragile X syndrome also are diagnosed with autism. About one million people in the U.S. have the fragile X syndrome mutation to some degree.
Fragile X syndrome is more commonly found, and more severe, in males than females. It got its name because under the microscope one arm of the X chromosome appears to be hanging by a thread. The physical effects in adult males can include elongated faces, prominent jaws, large ears, and enlarged testes.
People with fragile X syndrome experience cognitive effects ranging from mild learning disabilities to profound mental retardation in which they are unable to speak. They experience an overload of synaptic noise (synapses are the junctions between brain neurons).
The experimental drug tries to improve the function of neurons so improved cognitive and behavioral functioning can occur.
“We’re excited to be selected as a site for these clinical trials, as the drug could have benefits not only for people with fragile X syndrome but also for other disorders that share common features such as some forms of autism,” Dr. Fleisher said. “Early studies have shown that this drug appears to affect the neurons that become overexcited and are responsible for the behavioral problems of this syndrome.”
Dr. Daughton said people with fragile X syndrome manifest a variety of behavior symptoms, including poor social skills, physical aggression/anger, excitability, inability to cope with change, anxiety, ritualized and repetitive behaviors, and – in some cases – self-abusive behaviors.
“It is thought that initiating the medication in adolescence may limit the downstream effect of the genetic error and possibly prevent some of these cognitive and behavior difficulties,” she said.
For more information on the fragile X syndrome clinical trials at UNMC, call 402-552-6239. For more information on UNMC’s clinical trials program, call Deb Meyer at 402-559-6941, or go to http://net.unmc.edu/ctsearch/index_unmc.php.
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