Retinal biomarkers in hereditary vascular dementia (CADASIL)
Official title: Retinal biomarkers in monogenic vascular cognitive impairment and dementia
Funded at University of Wisconsin-Madison · NIH-11418697 · Data updated 2026-11-12
A US study will follow 180 people with a CADASIL gene mutation to see if eye imaging can reveal clues about disease progression and help prepare for future treatments.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Wisconsin-Madison NIH-funded |
| Lab location | 1 site (Madison, United States) |
| Project start | September 5, 2024 |
| Project end | August 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $1,213,790 |
| NIH project number | 5U01FD008399-03 |
| Project ID | NIH-11418697 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults with the autosomal dominant NOTCH3 mutation causing CADASIL who are willing to participate in longitudinal retinal imaging and clinical assessments.
✕Less likely to help
Individuals without CADASIL or not meeting genetic criteria are unlikely to benefit directly.
What this research studies
This project enrolls individuals with CADASIL to collect retinal images and monitor changes over time across the disease spectrum, from presymptomatic carriers to dementia. Researchers will look for retinal features that could serve as diagnostic or monitoring biomarkers for vascular cognitive impairment. The goal is to better understand disease progression and identify readiness for future clinical trials. The study builds on an established multisite natural history framework to study how a single-gene vascular dementia evolves across life.
Why it matters
Potential benefit: If successful, retinal biomarkers could enable earlier diagnosis and more precise monitoring of CADASIL, potentially guiding treatment decisions and trial eligibility.
How similar studies have gone: Previous work supports retinal changes as potential biomarkers in vascular brain diseases, but this study uniquely tracks a single-gene vascular dementia across the lifespan.
Where this research is happening
-
University of Wisconsin-Madison
Madison, United States Active
Researchers
- Principal investigator: Paulsen, Jane S — University of Wisconsin-Madison
- Study coordinator: Paulsen, Jane S
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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.