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.

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Man and woman walking in park image by Taras Lazer from Pixabay