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

If you arrived on this page through a MyFXResearch Portal search, you can close this window and return to your filtered results. Or start a new search here.
View More Opportunities

View All

Survey: Needs and Experiences of Families with Young Children with Fragile X

This survey will help support families in the Early Check study in NC whose newborns have been diagnosed with Fragile X and inform the design of an early intervention program for these babies.

Early Development of Young Children with Fragile X in North Carolina

RTI Int’l and UNC at Chapel Hill are conducting a research study to learn more about early development of young children with Fragile X in North Carolina, and the experiences of their parents when obtaining the diagnosis and early intervention services.

Metformin in Individuals with Fragile X Syndrome

We have preliminary evidence that metformin, a common type 2 diabetes medication, is beneficial for language, cognition, and behavior in both children and adults with Fragile X Syndrome.

Describing Anxiety for People with Fragile X Syndrome

A survey to measure levels of behavior. When someone with FXS is experiencing anxiety, describe what you see and hear, and how the experience impacts your/their quality of life.

Visual Perception Study

Our research is looking at how you see and remember the visual world, and how attention changes what we see. We hope our findings will provide a better understanding of the differences in vision and attention occurring in autism.

Purdue University: Brain and Behavior Study

Our goal is to better understand the different mechanisms within the brain that contribute to the development of psychiatric conditions, including depression, so we can establish better prevention and intervention efforts within this population.

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