At a Glance
- Study Type: Study
- Condition: FXTAS
- Age: 18 and older
- Sex: Male
- Participant: Has mild or no symptoms of 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 adult men age 18 and older, who carry the premutation.
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 Stephen T Warren National Fragile X Center at Emory, Atlanta, Georgia.
About the Stephen T Warren National Fragile X Center at Emory
The Stephen T Warren 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.”
Our Most Recent Opportunities
Study: Web Intervention for Parents of Youth with Genetic Syndromes (WINGS)
Researchers at the Autism Assessment, Research, Treatment & Services (AARTS) Center at Rush University Medical Center are currently conducting a fully-virtual research study that is testing two telehealth interventions that are designed to help parents of children with genetic syndromes and intellectual disabilities gain strategies to manage challenging behaviors.
Neural Underpinnings of the Relationship Between Cognition and Gait Dysfunction in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
Movement disorders researchers at Rush University Medical Center are conducting a research study to learn about brain activation in people living with FXTAS during tasks like walking and thinking. This study is currently recruiting adults ages 50+ who are living with FXTAS.
Pharmacogenomics and the Fragile X Community: Interest and Prior Understanding
Researchers at the University of Alabama are looking for members of the FX community to take their online survey so they can explore the knowledge & opinions of the FXS community on pharmacogenomic testing.
Brain & Behavior Study
Researchers at Purdue University are conducting a natural history research study to learn about brain activity in females, ages18-60 years, living with the FMR1 premutation.
NFXF Gene Therapy Community Survey
Help the NFXF - share your thoughts on gene therapy.
Study: Mechanisms and biomarkers of disease progression in Fragile X-associated tremor/ataxia syndrome (FXTAS)
The University of Kansas BRAIN Lab is conducting a research study to learn about behavioral and brain differences associated with the Fragile X premutation. Males and females ages 50-80 living with the Fragile X premutation, with or without FXTAS, may be eligible to participate. The study includes remote & in-person visits at the University of Kansas.