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: 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.
Exploring Potential Barriers to the Fragile X Syndrome Cascade Screening Process
Researchers at the University of Memphis and Cincinnati Children's Hospital Medical Center are conducting a research study exploring the relationship between barriers and the FXS screening process among family members.
Grief and Bereavement Experiences of Children with Intellectual Disabilities
Researchers at the University of Maryland are looking to understand how children with Fragile X syndrome (FXS) and other intellectual disabilities grieve the loss of a loved one. If you are the parent or guardian of a child with FXS or another intellectual disability who has experienced the death of someone in their life when they were 5-17 years old, researchers want to talk to you.
Language Learning in Children: Vocabulary Acquisition in a Meaningful Context
The University of Washington's Neurodevelopmental Language and Learning (NeuDLL) Lab is conducting research addressing how children learn words in stories and the skills that support learning. Participation is remote and can be completed from home. Sessions are scheduled at your convenience.
Study: Recording the Experiences of Black and Hispanic Mothers who have Children with Fragile X Syndrome
Are you a Black or Hispanic woman raising a child with Fragile X syndrome? Researchers want to hear about your experiences. The South Carolina Family Experiences Lab is conducting 30-minute interviews to learn about the experiences of Black and Hispanic women raising a child with Fragile X syndrome. About the Study Who can participate? Black and Hispanic women of any age, who have a child with Fragile X syndrome, may [...]
Survey: What do you think about at-home research visits?
Dr. Schmitt and the Cincinnati Fragile X Center are conducting a survey to learn about potential barriers and advantages of conducting research visits in the home.