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Emory Study: Men With the FXTAS Premutation

//Emory Study: Men With the FXTAS Premutation

Emory Study: Men With the FXTAS Premutation

At a Glance
  • Study Type: Study
  • Condition: FXTAS
  • Age: 67 and older
  • Sex: Male
  • Participant: Has FXTAS
  • Location: At home
  • Travel Considerations: No travel necessary

FXTAS: Why do some people develop tremor and balance issues and others do not?

Researchers at Emory University working the “Modifiers of Fragile X-Associated Disorders (FX-MOD)” study are trying to answer this question, and you can help!

Q: Who can participate?

  • Currently enrolling men over the age of 67, who carry the premutation and do not have balance problems or tremor or who did not have these symptoms until after age 67.

Q: What does the study involve?

  • Study activities include a medical history review and collection of a blood or saliva sample for whole genome sequencing.
  • Participants receive a $25 gift card for a completed blood or saliva sample.
  • Travel is not necessary.

This is a study by the National Fragile X Center at Emory University, Atlanta, Georgia.

About the National Fragile X Center at Emory

The National Fragile X Center at Emory is focused on improving the lives of people with Fragile X-associated disorders through research, clinical care, and education. Emory has been involved in this goal since the alteration (called mutation) of the FMR1 gene was first identified by Dr. Stephen Warren in the early 1990s as the leading cause of Fragile X syndrome. To support its work, the National Institutes of Health is providing additional support, which makes Emory one of the three national Fragile X centers in the U.S. These centers are committed to working together to make rapid progress toward prevention and treatment of Fragile X syndrome (FXS), Fragile X-associated tremor/ataxia syndrome (FXTAS), and Fragile X-associated primary ovarian insufficiency (FXPOI).

“We can’t have real targeted treatments for Fragile X syndrome that will improve lives more than current supportive treatments without doing science that’s totally new and going where no clinician, researcher, or the FDA has gone before.”

—DR. ELIZABETH BERRY-KRAVIS, MD, PhD

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By | 2019-09-03T10:41:40+00:00 Mar 20, 2018|Opportunities for families|Comments Off on Emory Study: Men With the FXTAS Premutation

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