Recruiting

Understanding Early Stages of a Genetic Brain Blood Vessel Disease

Plain-English translation of NCT05677880 on ClinicalTrials.gov ↗ · Source last updated January 2026 · Translation generated June 2026 · How we translate trials

What is this trial?

This study is investigating CADASIL, a genetic condition that affects the small blood vessels in the brain and can lead to cognitive problems and dementia over time. Researchers want to understand how this disease develops by carefully tracking people at different stages—from those who carry the gene but have no symptoms, to those already experiencing memory or thinking problems. By studying these groups over three years, the research team hopes to find the earliest warning signs in the brain, blood, and thinking abilities.

CADASIL is the most common inherited form of vascular dementia, and many people with the gene will eventually develop serious cognitive decline. Right now, there are no proven treatments to slow or prevent the disease. This research aims to identify the earliest biological changes before symptoms appear, which could help develop new treatments and allow doctors to intervene sooner.

Do you qualify?

You likely qualify if…

you are at least 18 years old
you have tested positive for the NOTCH3 gene mutation (or are willing to get tested), or you have a positive skin biopsy for CADASIL
you are willing to attend three in-person visits over three years (at the start, 18 months later, and 36 months later) and participate in phone or email check-ins as needed
you can undergo an MRI brain scan and blood draws at each in-person visit
you have a trusted friend or family member who can serve as a study companion and provide information about your health and thinking abilities

You likely don't qualify if…

you have a serious learning disability, intellectual disability, or another neurological disease unrelated to CADASIL
you have struggled with alcohol or drug abuse in the past year
you are unwilling to have genetic testing for the NOTCH3 mutation if you don't already have results on file
you have severe functional decline that makes participation difficult or unsafe

What participation looks like

If you join, you'll visit the research clinic three times over three years for medical exams, memory and thinking tests, brain MRI scans, and blood draws. Between visits, you may have brief phone, email, or online check-ins with the study team. You'll also need to bring a study companion (someone who knows you well) to share observations about how you're doing. The study carefully tracks whether symptoms are developing and how the disease is progressing, using the information to better understand CADASIL in its earliest stages.

AI-generated summary from trial data · Jun 7, 2026 · Not medical advice

Trial locations(12 sites)

United States

University of California, Los Angeles, California

University of California, San Francisco, California

University of Colorado, Denver, Colorado

Georgia State University Research Foundation, Atlanta, Georgia

Loyola University, Chicago, Illinois