MedTrace Logo

Natural History Study of CADASIL

NCT05072483 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 155

Last updated 2026-05-14

No results posted yet for this study

Summary

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.

Conditions

  • Cardiovascular Disease
  • Arterial Stiffness
  • Germline Mutation in the NOTCH 3 Gene
  • Pathogenesis of CADASIL
  • Clinical Phenotype of CADASIL

Interventions

DEVICE

MRI

Research pulse sequences.

Sponsors & Collaborators

  • National Heart, Lung, and Blood Institute (NHLBI)

    lead NIH

Principal Investigators

  • Elisa A Ferrante Brenlla, Ph.D. · National Heart, Lung, and Blood Institute (NHLBI)

Eligibility

Min Age
18 Years
Max Age
100 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2022-04-18
Primary Completion
2034-06-01
Completion
2041-06-01

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05072483 on ClinicalTrials.gov