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Fragile X Study: Premutation Carriers

Clinical Trial Protocol ID: 
01061203
Clinical Trial Investigator Name: 
Elizabeth Berry-Kravis, MD

This is an NIH-funded consortium project with Paul Hagerman, MD, PhD, and Randi Hagerman, MD, at the University of California, Davis, and with Maureen Leehey, MD, at the University of Colorado in Denver.

Scientists involved in the study are investigating neurological symptoms in male and female carriers of the FXS premutation, and comparing these symptoms to other carriers and noncarriers of the same age.

The study requires that participants come to Rush one time for approximately two hours to complete a videotape protocol and to answer questions on standardized forms about any symptoms they may have. Each participant is videotaped while completing a series of movements and answering questions. These videos are then reviewed by Christopher Goetz, MD, a movement disorders specialist at Rush.

Clinical Trial Eligibility Criteria: 

To be eligible for this study, you must be related to someone with fragile X syndrome and be over the age of 50. You do not need to know your carrier status prior to entering, as we offer free DNA testing as part of the study. Carriers and noncarriers of both sexes are needed. For more information about eligibility requirements, please call the number listed on this page.

Contact Name: 
Rebecca Lara
Contact Phone: 
(312) 942-7250
Contact Email: