Tracking changes and causes of Fragile X-associated tremor/ataxia syndrome (FXTAS)
Mechanisms and biomarkers of disease progression in 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.
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 ID | NIH-11239018 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: 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.
Not a fit: People without FMR1 premutations or those seeking immediate therapeutic benefit are unlikely to receive direct clinical benefit from participating.
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 performed: 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
Lawrence, United States
- University of Kansas Lawrence — Lawrence, United States (Active)
Researchers
- Principal investigator: Mosconi, Matthew W — University of Kansas Lawrence
- Study coordinator: Mosconi, Matthew W
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 below.