Tracking early brain changes in people with the Fragile X premutation
Trajectories and Markers of Neurodegeneration in Carriers of the Fragile X Premutation
['FUNDING_R01'] · UNIVERSITY OF CALIFORNIA AT DAVIS · NIH-11261747
This project follows people who carry the Fragile X premutation to find early brain, blood, and clinical signs that predict development of FXTAS.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA AT DAVIS (nih funded) |
| Locations | 1 site (DAVIS, UNITED STATES) |
| Trial ID | NIH-11261747 on ClinicalTrials.gov |
What this research studies
If you carry the Fragile X (FMR1) premutation, the team follows you over time with clinical exams, cognitive testing, blood-based molecular tests, and brain MRI scans to look for the first signs of FXTAS. They compare carriers who go on to develop symptoms with those who do not to find imaging and molecular markers linked to “phenoconversion.” The researchers study blood RNA, mitochondrial measures, and MRI white-matter and atrophy changes to understand biological mechanisms like altered RNA splicing and mitochondrial dysfunction. Results are used to improve prediction of who is at higher risk and to guide future monitoring or treatment trials.
Who could benefit from this research
Good fit: Adults who carry the FMR1 premutation, especially those without advanced FXTAS symptoms and willing to attend clinic visits, blood draws, and MRI scans, are ideal candidates.
Not a fit: People without the FMR1 premutation or those with advanced, end-stage FXTAS are unlikely to gain direct benefit from this study.
Why it matters
Potential benefit: If successful, this work could enable earlier identification of people at high risk for FXTAS and support targeted monitoring or future therapies.
How similar studies have performed: The team’s prior longitudinal work has already found preliminary imaging and molecular clues, but larger and longer follow-up is needed to confirm reliable predictive markers.
Where this research is happening
DAVIS, UNITED STATES
- UNIVERSITY OF CALIFORNIA AT DAVIS — DAVIS, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: HESSL, DAVID R — UNIVERSITY OF CALIFORNIA AT DAVIS
- Study coordinator: HESSL, DAVID R
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.