At a Glance
- Study Type: Study
- Condition: FXTAS
- Age: 67 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 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.”
Our Most Recent Opportunities
Parents or caregivers of individuals with Fragile X syndrome who has received services via telehealth during the COVID-19 pandemic may be eligible to participate.
Individuals with FXS who are 18 years or older and able to talk fluently about own experiences, and their caregivers and providers may be eligible to participate. Eligible providers include teachers, psychologists, social workers, and physicians.
NFXF has partnered with an advisory committee of international fragile X professionals to create an international fragile X premutation research registry. Find out how to participate.
A Mount Sinai Genetic Counseling graduate student is conducting a research study to learn about possible benefits and side effects of CBD supplements when used to treat FXS symptoms. This information will be obtained by using an anonymous online parental and caregiver survey. About the Survey Who can participate? Parents and caregivers caring for somebody with FXS who uses, or has used, CBD supplements may be eligible to participate. The parent or caregiver responding to the survey must be at least 18 years old. The individual with ...
Participants of this study will explore what information is considered most important to recently diagnosed fragile X premutation carriers. Open to premutation carriers 18 and over who were diagnosed sometime since January 2018.
Kaylynn Shuleski, a master’s in genetic counseling candidate, is conducting a research study to explore the concerns and challenges caregivers may face when planning long-term supports and living arrangements for their adult children with Fragile X syndrome (FXS). This information will be valuable for current and future families when considering long-term supports, as well as for healthcare professionals, counselors, and policy makers. About the Study Who can participate? Parents and caregivers of adults with full mutation ...