Investigating eye imaging for diagnosing a rare genetic form of dementia
Retinal biomarkers in monogenic vascular cognitive impairment and dementia
This study is looking for people with a specific genetic mutation related to CADASIL, a rare condition that affects thinking and memory, to see if eye scans can help track how the disease progresses and improve treatment options.
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 ID | NIH-11085025 on NIH RePORTER |
What this research studies
This research focuses on individuals with a specific genetic mutation linked to a rare form of vascular cognitive impairment known as CADASIL. By enrolling 180 participants, the study aims to explore how retinal imaging can serve as a diagnostic and monitoring tool for this condition. The research will track the progression of symptoms from early stages to dementia, providing insights that could enhance understanding of vascular dementia as a whole. This approach is unique as it targets a single-gene disorder, potentially leading to more precise treatment strategies.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals who carry the autosomal dominant gene mutation for CADASIL.
Not a fit: Patients without the CADASIL gene mutation or those with other forms of dementia may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnostic methods and monitoring strategies for patients with CADASIL and related vascular dementias.
How similar studies have performed: This research is novel and aims to fill a gap in understanding a specific genetic form of vascular dementia, although similar approaches have shown promise in other neurodegenerative conditions.
Where this research is happening
Madison, United States
- University of Wisconsin-Madison — Madison, United States (Active)
Researchers
- Principal investigator: Paulsen, Jane S — University of Wisconsin-Madison
- Study coordinator: Paulsen, Jane S
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.