NCT05072483

Natural History Study of CADASIL

Recruiting now Last updated 25 February 2026

What this trial tests

trial testing MRI in Cardiovascular Disease in 155 participants. Currently enrolling.

Timeline

18 April 2022

Primary endpoint
1 June 2034

1 June 2041

Quick facts

Lead sponsor	National Heart, Lung, and Blood Institute (NHLBI)
Status	Recruiting now
Study type	OBSERVATIONAL
Enrollment	155
Start date	18 April 2022
Primary completion	1 June 2034
Estimated completion	1 June 2041
Sites	1 location across United States

Drugs / interventions tested

• MRI — full drug profile →

Conditions studied

• Cardiovascular Disease — all drugs for Cardiovascular Disease →
• Arterial Stiffness — all drugs for Arterial Stiffness →
• Germline Mutation in the NOTCH 3 Gene — all drugs for Germline Mutation in the NOTCH 3 Gene →
• Pathogenesis of CADASIL — all drugs for Pathogenesis of CADASIL →

Sponsor

National Heart, Lung, and Blood Institute (NHLBI)

Who can join

Adults 18 to 100, any sex, with Cardiovascular Disease or Arterial Stiffness. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

Background:

CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy) is a genetic disorder. It causes narrowing of the small blood vessels and can lead to strokes and dementia. Researchers want to monitor people with CADASIL over time.

Objective:

To learn more about how CADASIL affects a person s blood vessels over time.

Eligibility:

Adults ages 18 and older who have CADASIL, and healthy volunteers.

Design:

Participants will be screened with a medical record review.

Participants will have 4 study visits over 9 years. Visits will last 6 8 hours per day, for 2 4 days.

Participants will give blood and urine samples. They will have an electrocardiogram to record their heart s electrical activity. They will fill out a family tree. They will have tests that measure mental abilities like memory and attention. They may have a skin biopsy. They may have a lumbar puncture.

Participants will have an eye exam. Their pupils will be dilated. They will receive a dye via intravenous (IV) line. Pictures will be taken of their eyes.

Participants will have an imaging scan of their brain. They may receive a contrast agent via IV.

Participants blood flow and blood vessel flexibility will be measured. In one test, a probe will be pressed against the skin of the their wrist, neck, and groin. In another test, they will hold one arm still while a microscope makes videos of the blood flow through a fingernail. In another test, they will perform light exercise or other activities while wearing an elastic band around their head or probes placed on their arm or leg.

Healthy volunteers will complete some of the above tests.

Publications & conference data

No peer-reviewed publications indexed yet for this trial.