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Protocol Details

CADASIL Disease Discovery

This study is NOT currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Heart, Lung and Blood Institute (NHLBI)

Recruitment Detail

Type: Completed Study; data analyses ongoing
Gender: Male & Female
Min Age: 18 Years
Max Age: 100 Years

Referral Letter Required


Population Exclusion(s)



progressive white matter degeneration, and debilitating dementia.;
progressive chronic hypoperfusion;
Biospecimen Procurement;
Laboratory Research Specimens;
Natural History

Recruitment Keyword(s)



germline mutation in the NOTCH 3 gene;
Cardiovascular Disease;
Arterial Stiffness;
pathogenesis of CADASIL;
clinical phenotype of CADASIL

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Heart, Lung, and Blood Institute

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.


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


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


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.

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- Male or female, age 18 to 100 years (inclusive).

- Established diagnosis of CADASIL, as determined by genetic testing, in early stages of disease (0-5 years after diagnosis) with mild or no cognitive impairment.

- Willing and able to comply with study requirements.


-Subjects unable to give informed consent without requirement for a legally authorized representative

-Subjects who decline to provide samples for blood and/or tissue studies, or who do not consent to have samples stored for future research

-Pregnant women are excluded due to study procedures (pregnancy test will be done in females of childbearing age under other NHLBI-approved protocols the subject is consented to, up to 48 hours prior to consenting to this protocol).

-Subjects unable to undergo an MRI scan

--Subjects who have internal non-MRI compatible metals (i.e. cardiac pacemaker, brain stimulator, shrapnel, surgical metal, clips in the brain or on blood vessels, cochlear implants, artificial heart valves or metal fragments in the eye) as these rendering an MRI unsafe

--Subjects with ferromagnetic dental bridges or crowns (exclusion only for 7.0T)

--Subjects unable to remain supine for the expected length of the MRI (i.e. up to 1 hour)

--Subjects with uncontrolled head movements

--Subjects who are claustrophobic for the expected length of the MRI (i.e. up to 1 hour) and claustrophobia cannot be controlled with anti-anxiety medication.

-Subjects whose scans or examinations show unexpected brain conditions.

-Subjects who do not speak English

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Not Provided

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Principal Investigator

Referral Contact

For more information:

Manfred Boehm, M.D.
National Heart, Lung and Blood Institute (NHLBI)
National Institutes of Health
Building 10
Room 5-3132
10 Center Drive
Bethesda, Maryland 20892
(301) 435-7211

Elisa A. Ferrante Brenlla, Ph.D.
National Heart, Lung and Blood Institute (NHLBI)
National Institutes of Health
Building 10
Room 5-3232
10 Center Drive
Bethesda, Maryland 20892
(301) 402-3577

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1

Clinical Trials Number:


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