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Fragile X Study: Premutation Carriers

Clinical Trial Title: 
Neurological phenotype in FMR1 premutation carriers
Clinical Trial Protocol ID: 
Clinical Trial Investigator Name: 
Elizabeth Berry-Kravis, MD
Clinical Trial Protocol Description: 

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.

This is a partial list of eligibility requirements. To inquire about your eligibility, please call the contact number provided. If you wish to inquire via email, please include the title of the study in your message.

Clinical Trial Area: 
Fragile X Syndrome
Pediatric Neurological Disorders
Contact Email: 
Contact Phone: 
(312) 942-7250
Contact Name: 
Rebecca Lara