MedTrace Logo

CADASIL Disease Discovery

NCT02821780 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 20

Last updated 2026-04-14

No results posted yet for this study

Summary

Cerebral autosomal dominant arteriopathy with subcortical infarct (CADASIL) is a lethal disease caused by a gene mutation that affects arteries in the brain. Symptoms include migraines, strokes, memory loss, and dementia. There are no treatments. Researchers want to study people who have CADASIL to learn more about it.

Objectives:

To learn more about CADASIL by studying people who have it.

Eligibility:

People ages 18-100 who were diagnosed with CADASIL in the past 5 years and can make their own decisions

Design:

Participants will be screened in another NIH protocol.

Participants will have 3 visits over 2 years. These may include:

* Physical exam
* Thinking and concentration tests
* Blood tests
* Skin biopsy: A small skin punch is removed from the arm or leg
* Eye exam and eye imaging tests
* Fluorescein angiogram: A catheter is placed in an arm vein. Dye is given through the catheter and travels

to the eyes.

* EndoPAT: A small clamp on the fingertip measures blood volume.
* Cardio-ankle vascular index (CAVI): Artery stiffness is tested with blood pressure cuffs on the arms and

legs. Soft electrodes on the skin measure heart signals.

* Brain MRI or MRA: They lie on a table that slides in and out of a tube that takes pictures. They may get

a contrast agent in their vein. It brightens the brain so researchers can see where blood flows.

* CT scan of the heart: They lie on a table that slides in and out of a machine that takes pictures.
* They get contrast dye injected through a catheter. They may get a medicine that makes their blood

vessels bigger or slows their heart rate.

Conditions

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

Sponsors & Collaborators

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

    lead NIH

Principal Investigators

  • Manfred Boehm, M.D. · National Heart, Lung, and Blood Institute (NHLBI)

Eligibility

Min Age
18 Years
Max Age
100 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2016-10-18
Primary Completion
2022-05-03
Completion
2022-05-03

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 NCT02821780 on ClinicalTrials.gov