Five U.S. medical centers are recruiting participants for a Phase II clinical trial testing targeted drug therapy for fragile X syndrome.

The randomized, double-blind, placebo-controlled clinical study sponsored by Roche Pharmaceuticals is being conducted in 32 adult participants, ages 18 to 50, with fragile X syndrome. A second study will continue testing the most effective dose against a placebo in 28 participants.

The drug being testing is an mGluR5 antagonist, which puts decreases mGluR5 activity in the brain and may improve learning and cognition. Its name is RO4917523; more information is available at clinicaltrials.gov.

A phase I trial of this drug was conducted last year in adults without fragile X syndrome, and no serious adverse events were noted. The current trial will assess safety and tolerability of this medicine, as well as its effects on learning, mood, and behavior. Eight visits over 11 weeks are required, and the study involves multiple blood draws. Participants will get physical examinations and detailed testing of learning and behavior.

The study sites are:

Emory University Fragile X Clinical Trials Unit, Atlanta, GA
Dr. Jeannie Visootsak, principal investigator
Contact either Krista Charen at 404-778-8479 or kharkre@emory.edu
or Lisa Shubeck at 404-778-8478 or lshubec@emory.edu

Rush University Medical Center, Chicago, IL
Dr. Elizabeth Berry-Kravis, principal investigator
Contact trial/research intake coordinator Crystal Hervey at 312-942-7250 or Crystal_Hervey@rush.edu

Riley Hospital for Children Indianapolis, IN
Dr. Craig Erickson, principal investigator
Contact a member of Dr. Erickson's team at 317-278-9766 or kidpsych@iupui.edu

Vanderbilt University Medical Center, Nashville, TN
Dr. Jeremy Veenstra-VanderWeele, principal investigator
Contact Clinical Trials Associate Hannah Benneyworth at 615-936-3288 or Martha.H.Benneyworth@vanderbilt.edu

MIND Institute, University of CA at Davis
Dr. Randi Hagerman, principal investigator
Contact Sarah Coffey at 916-703-0281 or sarah.coffey@ucdmc.ucdavis.edu

The National Institutes of Health is seeking men (ages 18-24 years) with fragile X syndrome for a research study at the NIH Clinical Center in Bethesda, Maryland. Updated 3/10.

This study is preliminary to doing brain imaging in subjects with fragile X syndrome. In this study we will determine how well men with fragile X syndrome can accept lying down in a scanner.

This study has minimal risk, requires one outpatient visit lasting about 4 hours, and participants will be compensated.

For more information call or e-mail Dr. Bishu at 301-402-5295 or bishus@mail.nih.gov
Refer to study 06-M-0214
posted 4/18/08; updated 3/9/10. More information at www.clinicaltrials.gov

We are conducting a research study to examine social behavior in children with and without genetic disorders that are related to developmental disabilities. Specifically, we want to learn more about how children with developmental disabilities value social interaction and react when they are placed in unfamiliar social situations as compared to their typically developing peers. The study will consist of a telephone screening to determine eligibility and a 4 to 5 hour clinic visit that includes cognitive and behavioral testing and 3 experimental tasks. The experimental tasks will assess the child’s preference for social interaction, how they react to unfamiliar objects and people, and how easily they learn using social versus non-social cues.

Typically developing children between the ages of 3 and 12 and children with Fragile X syndrome between the ages of 5 and 12 who do not have vision or hearing impairments are eligible to participate. Interested families can contact Daina Crafa, study coordinator at 443-923-2793 or Mary Anderson, Ph.D. at 443-923-9535.

Principal Investigator: Dr. Louis Hagopian
Protocol Number: NA_00026222

Approved 02/04/2010

This multi-center study involves the collaboration of two sites which are part of an NIH-funded network (University of North Carolina at Chapel Hill, and Washington University in St. Louis, MO). At UNC, the lead investigator is Heather Cody Hazlett, PhD., she is well known in the field of developmental disabilities, and is currently assisting and leading four studies within the field of developmental disabilities. Currently, we are searching for 30 participants in the US who meet the following criteria:

* Are between 0-6 months of age (parents who are expecting may also be eligible)
* Have a diagnosis of fragile X

Once a family is enrolled in this study, they will travel to Chapel Hill, NC for a comprehensive series of developmental, non-invasive assessments completed on the infant at the 6, 12 and 24 month time periods. Also, during this trip the infant will receive an MRI scan while they sleep. Between trips to Chapel Hill there will be phone conversations, genetic and environmental data collection.

There is no cost for family participation. All travel and lodging costs are reimbursed by the study, and any services the study provides are at no charge to the family. Families will receive feedback on the assessments and each MRI scan. The family will also receive $150 for each completed visit.

Please contact Jaclyn Anthony for more information.

The Carolina Communication Project would like to invite boys ages 6-14 and girls ages 3-14 with fragile X syndrome, who are regularly using phrases with 3 or more words, to participate in a language study conducted by our researchers from the FPG Child Development Institute at the University of North Carolina at Chapel Hill.

Each child will participate in hearing, language, and developmental assessments once a year for three years. These can be completed in your home, your child’s school, or at FPG at a time convenient for you and your child. Everything is completely free and you will receive a written summary of our findings after the visit.

For more information please call 1-877-696-5797 (toll-free) or email our Project Coordinator, Anne Edwards at edwards@mail.fpg.unc.edu.

We are recruiting families for a longitudinal research project designed to investigate the language learning difficulties of boys who have fragile X syndrome and the ways in which autism symptoms might contribute to those difficulties. Boys with fragile X syndrome between 4 and 10 years of age are eligible to participate. Participation would require visiting the Waisman Center on the campus of the University of Wisconsin-Madison or the M.I.N.D. Institute of the University of California at Davis. The costs for eligible travel expenses, including hotel and airfare, will be covered by the project. Because the project is longitudinal, we will ask families to return for additional testing 1.5 years after their first visit. For more information and to learn if your son is eligible, contact Dr. Len Abbeduto (abbeduto@waisman.wisc.edu or 608-263-1737) or Susen Schroeder, M.A. (sschroeder@waisman.wisc.edu or 608-263-5145) or Emily Porter (ekporter@wisc.edu or 608-263-5145). This research is approved by a University of Wisconsin-Madison Institutional Review Board for the Protection of Human Participants. Posted 12/08.

Researchers at The University of Wisconsin - Madison and The Waisman Center would like to invite adolescent girls (ages 13-20 years) with fragile X to participate in a social communication study.

Travel to Madison, Wisconsin for the study will be paid for.

If you would like more information regarding this research project please contact the Communication and Cognition Laboratory at 608-262-6904 to learn more. If no one is available when you call please leave your contact information and we will get back to you.