FXTAS in Women with the FMR1 Premutation: Understanding Symptoms Across Adult Life
Official title: FXTAS in Women with the FMR1 Premutation: Establishing the Profile, Predictors, and Progression of Symptoms across Adulthood
Funded at University of South Carolina at Columbia · NIH-11416746 · Data updated 2026-11-12
This grant studies how FXTAS affects women with the FMR1 premutation over time to help doctors forecast problems and support patients.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of South Carolina at Columbia NIH-funded |
| Lab location | 1 site (Columbia, United States) |
| Project start | September 10, 2025 |
| Project end | August 31, 2030 |
| Funding year | 2026 |
| Award (this year) | $535,575 |
| NIH project number | 5P50HD118708-02 |
| Project ID | NIH-11416746 on NIH RePORTER |
Who could benefit from this research
✓Could help
Women with the FMR1 premutation across a wide adult age range, including those who have not yet shown FXTAS symptoms.
✕Less likely to help
Individuals without the FMR1 premutation or FXTAS-related risk are unlikely to benefit from this specific study.
What this research studies
The project follows women with the FMR1 premutation to map when FXTAS-related symptoms appear and how they progress from early adulthood to older age. It uses a large, diverse group and compares against matched controls to capture meaningful changes over decades. The study aims to find early language and voice markers and other clinical factors that predict who will develop more severe symptoms.
Why it matters
Potential benefit: If successful, it could lead to earlier detection, better counseling, and personalized care strategies for women at risk of FXTAS.
How similar studies have gone: Previous research has shown FXTAS progression in men; this study addresses the underrepresented FXPM female population with a similar longitudinal approach.
Where this research is happening
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University of South Carolina at Columbia
Columbia, United States Active
Researchers
- Principal investigator: Klusek, Jessica — University of South Carolina at Columbia
- Study coordinator: Klusek, Jessica
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.