The University of South Carolina is conducting a research study to learn about the Fragile X premutation. The focus is on the range of language, social, and cognitive features that may be associated with variation on the FMR1 gene.
About the Research Study
Who can participate?
Women who are carriers of the Fragile X premutation, aged 35–75 years, may be eligible to participate.
What will happen in the study?
If the individual qualifies and decides to be in this research study, participation will take about 4 hours and will take place at the University of South Carolina or in a quiet room in the participant’s home, depending on participant preference. All travel expenses are covered by the project.
Participation will involve:
- Answering questions and completing assessments about cognitive, language, and social styles, and preference and family experiences.
- Providing a genetic sample (cheek swab) to index FMR1 gene variation.
What are the good things that can happen from this research?
We hope our results will help us learn how to better support families who have a child with Fragile X and individuals who carry the Fragile X premutation.
What are the bad things that can happen from this research?
There is minimal risk associated with participation. Participants may experience mild fatigue or frustration while completing study activities; breaks will be offered as needed.
Will I be paid to be in this research study?
Participants receive $50. Travel reimbursement may be available for eligible families.
Our Most Recent Opportunities
The Development in Neurogenetic Disorders Lab at the University of Illinois at Urbana-Champaign is conducting a research study to learn about what skills support early language development.
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.
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 ...