Understanding disease progression in Fragile X-associated tremor/ataxia syndrome (FXTAS)
Mechanisms and biomarkers of disease progression in Fragile X-associated tremor/ataxia syndrome (FXTAS)
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 ID | NIH-11015811 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: 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.
Not a fit: Patients who are younger than 65 or do not have any genetic predisposition to FXTAS may not benefit from this research.
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 performed: 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
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.