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
Study: Autonomic and Sensory Functioning in Infants with FMR1 Conditions
Dr. Jane Roberts and the research staff at the Neurodevelopmental Disorders Laboratory at USC are conducting a research study to learn about the development of infants with Fragile X syndrome and Fragile X premutation over the first few years of life.
Survey: Research experiences in Fragile X Families
The Brain and Biomarker Lab at the University of Oklahoma is conducting a survey to learn about experiences with research, particularly biomedical research, in families with Fragile X syndrome (FXS).
Study: Language Study for Children and Adolescents with Fragile X syndrome
Researchers at the University of Wisconsin-Madison and the University of Massachusetts-Amherst are conducting a study to learn about links between learning and language in Fragile X syndrome.
Survey: Fragile X Nutrition Survey
The University of Wisconsin-Madison is conducting a survey to learn about associations between infant feeding and neurodevelopment in children with Fragile X syndrome.
Clinical Trial: Phase 2B/3 Studies of BPN14770 in Fragile X syndrome
Tetra Therapeutics is conducting a two randomized, placebo-controlled studies of BPN14770/zatolmilast to learn about the experimental drug’s safety and efficacy for males ages 12-45.
Survey: Developing a Gold Standard for Tracking Adult Functional Outcomes in Developmental Disabilities (AFS Study)
University of Pittsburgh is conducting this research to develop the Adult Functioning Scale (AFS), a new survey being designed to capture outcomes in the areas of social functioning, employment, independence, and satisfaction for individuals with various developmental disorders.