Drs. Joanne O’Keefe, Deborah A. Hall, and Elizabeth Berry-Kravis, are researching cognition, balance, and walking patterns in people who carry a premutation in the Fragile X (FMR1) gene.
About the Study
Who can participate?
Male premutation carriers ages 40–90 and living in the U.S. may be eligible to participate.
You may be able to participate in this study if you are able to walk unsupported for at least 2 minutes and stand unassisted for at least 30 seconds.
What will happen in the study?
If you qualify and decide to be in this research study, you will come to Rush University in Chicago for a visit lasting 1.5–2 hours.
You may be asked to:
- Have your balance and walking tested while wearing sensors around your wrists, ankles, chest, and waist; these are worn outside of your regular clothing. Your balance will be tested while standing on and off a foam pad with your eyes open and closed. Your walking will be tested by having you walk up and down the hallway at different speeds. These will be done with and without a simultaneous thinking task.
- Perform a short series of movements with your hands and arms while wearing a sensor on your index finger to test for tremor.
- Perform a short series of thinking tasks and a functional balance test.
- Answer questionnaires about your balance confidence and any symptoms of anxiety and depression.
- Have a short neurological examination.
- Have a sample of your blood or cheek cells taken to determine your FMR1 gene status.
What are the good things that can happen from this research?
We will better understand how cognition impacts gait and balance in premutation carriers with and without Fragile X-associated tremor/ataxia syndrome (FXTAS) and identify markers associated with its early detection. This research may help identify target treatment strategies for FXTAS.
What are the bad things that can happen from this research?
There is a very small risk of falling during the balance and walking tasks, but you will be carefully monitored to prevent this throughout the testing procedures.
Will you be paid to be in this study?
You will not be compensated for participation in this study. Parking is reimbursed.
Our Most Recent Opportunities
Study: Behavioral and Cognitive Inflexibility in Fragile X Syndrome
Individuals with FXS who are 18 years or older and able to talk fluently about own experiences, and their caregivers and providers may be eligible to participate. Eligible providers include teachers, psychologists, social workers, and physicians.
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A Mount Sinai Genetic Counseling graduate student is conducting a research study to learn about possible benefits and side effects of CBD supplements when used to treat FXS symptoms. This information will be obtained by using an anonymous online parental and caregiver survey. About the Survey Who can participate? Parents and caregivers caring for somebody with FXS who uses, or has used, CBD supplements may be eligible to participate. The parent or caregiver responding to the survey must be at least 18 years old. The individual with ...
Survey: How has the COVID-19 Pandemic Impacted Fragile X Families
Researchers at Teachers College at Columbia University are conducting a survey to learn about the impact that the COVID-19 pandemic has had on multiple aspects of the lives of people with Fragile X Syndrome. We want to see how the Fragile X community specifically was impacted so that we can have a more focused plan of action for helping these families. The overall goal of this survey is to distribute our findings to medical professionals so that they can see what gaps have been created in their practices from the pandemic.
Exploring the Most Important Information for New Premutation Carriers
Participants of this study will explore what information is considered most important to recently diagnosed fragile X premutation carriers. Open to premutation carriers 18 and over who were diagnosed sometime since January 2018.
Parents and Caregivers of Adults with Fragile X Syndrome Needed for a Survey
Kaylynn Shuleski, a master’s in genetic counseling candidate, is conducting a research study to explore the concerns and challenges caregivers may face when planning long-term supports and living arrangements for their adult children with Fragile X syndrome (FXS). This information will be valuable for current and future families when considering long-term supports, as well as for healthcare professionals, counselors, and policy makers. About the Study Who can participate? Parents and caregivers of adults with full mutation ...
