Tracking changes and causes of Fragile X-associated tremor/ataxia syndrome (FXTAS)
Official title: Mechanisms and biomarkers of disease progression in Fragile X-associated tremor/ataxia syndrome (FXTAS)
Funded at University of Kansas Lawrence · NIH-11239018 · Data updated 2026-11-12
Researchers will follow people who carry FMR1 premutations—some with FXTAS, some without, and healthy volunteers—over two years to find brain, movement, and molecular markers linked to disease changes.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Kansas Lawrence NIH-funded |
| Lab location | 1 site (Lawrence, United States) |
| Project start | January 26, 2024 |
| Project end | November 30, 2028 |
| Funding year | 2026 |
| Award (this year) | $618,138 |
| NIH project number | 5R01NS131337-03 |
| Project ID | NIH-11239018 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal participants are adults who carry FMR1 premutations (both those with FXTAS symptoms and those without) as well as age- and sex-matched healthy adults.
✕Less likely to help
People without FMR1 premutations or those seeking immediate therapeutic benefit are unlikely to receive direct clinical benefit from participating.
What this research studies
If I join, the team will measure my movement (including hand actions, balance, and walking), take task-based brain MRI scans, and collect genetic and molecular samples. They plan to enroll people with FXTAS, premutation carriers without symptoms, and age- and sex-matched healthy adults and test everyone at two visits spaced 24 months apart. The goal is to identify quantitative biobehavioral markers that change with the disease and to link those changes to genetic and molecular risk factors. This work aims to create reliable ways to track progression that could be used in future treatment studies.
Why it matters
Potential benefit: If successful, the project could produce measurable markers to track FXTAS progression and help speed development and testing of future treatments.
How similar studies have gone: Imaging and biomarker approaches have aided understanding of other neurodegenerative diseases, but quantitative progression markers specific to FXTAS are largely novel and not yet established.
Where this research is happening
-
University of Kansas Lawrence
Lawrence, United States Active
Researchers
- Principal investigator: Mosconi, Matthew W — University of Kansas Lawrence
- Study coordinator: Mosconi, Matthew W
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m6A RNA modifications and FXTAS: uncovering new paths to treatment
A small, patient-focused study will explore how a brain RNA modification called m6A may influence the progression of Fragile X-associated tremor/ataxia syndrome (FXTAS) and point toward new treatment ideas.
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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.