FMR1 Premutation Across the Lifespan: Understanding how FXTAS and FXAND develop over time
Official title: Translation of the FMR1 Premutation Phenotypes Across the Lifespan
Funded at University of South Carolina at Columbia · NIH-11416721 · Data updated 2026-11-12
This NIH grant supports a multi-year effort to understand how FMR1 premutation-related conditions like FXTAS and FXAND unfold from early childhood through adulthood, so doctors can predict risk and guide care.
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) | $1,272,876 |
| NIH project number | 5P50HD118708-02 |
| Project ID | NIH-11416721 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children aged 3 to 5 with the FMR1 premutation and their families, plus related age groups as the study progresses.
✕Less likely to help
Individuals without the FMR1 premutation or those not involved in the longitudinal follow-up may not benefit from this research.
What this research studies
This project aims to map how FXTP-related symptoms emerge across different ages and sexes using a development-focused approach. Researchers will study clinical features and underlying mechanisms in a non-biased sample to identify new targets for intervention. The work involves collaboration across multiple investigators to follow participants over time and connect observed traits with biology that may drive FXTAS and FXAND. The ultimate goal is to improve risk prediction and inform future treatments for people with the FMR1 premutation and their families.
Why it matters
Potential benefit: Better understanding of when and how FXTAS and FXAND develop could lead to earlier diagnosis and more effective interventions for affected individuals and families.
How similar studies have gone: Previous work has begun to describe FXTAS/FXAND features, but this program emphasizes a comprehensive lifespan perspective and novel mechanistic targets.
Where this research is happening
-
University of South Carolina at Columbia
Columbia, United States Active
Researchers
- Principal investigator: Roberts, Jane E — University of South Carolina at Columbia
- Study coordinator: Roberts, Jane E
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.