Understanding disease progression in 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-11015811 · Data updated 2026-11-12
This study is looking for ways to better understand and track the progression of Fragile X-associated tremor/ataxia syndrome (FXTAS) in older adults, and it’s inviting people with FXTAS, those who carry the gene but aren’t showing symptoms, and healthy individuals to participate over two years.
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 | 2025 |
| Award (this year) | $556,268 |
| NIH project number | 5R01NS131337-02 |
| Project ID | NIH-11015811 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals aged 65 and older who are either diagnosed with FXTAS or are carriers of the premutation without symptoms.
✕Less likely to help
Patients who are younger than 65 or do not have any genetic predisposition to FXTAS may not benefit from this research.
What this research studies
This research investigates Fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative condition that affects motor abilities and quality of life in older adults. The study aims to identify new biomarkers that can track disease progression and understand the genetic and molecular factors contributing to FXTAS. Participants will include individuals with FXTAS, those who carry the gene but do not have symptoms, and healthy controls, all of whom will be assessed over a two-year period using advanced imaging and motor function tests.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for FXTAS, improving the quality of life for affected individuals.
How similar studies have gone: While FXTAS is a relatively understudied condition, similar research approaches in neurodegenerative diseases have shown promise in identifying biomarkers and understanding disease mechanisms.
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
Related research
Other NIH-funded projects on the same topics.
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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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Tracking changes and causes of Fragile X-associated tremor/ataxia syndrome (FXTAS)
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.
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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.