CompletedNot Applicable

CADASIL Disease Discovery

United States20 participantsStarted 2016-10-18

Plain-language 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.

Who can participate

Age range

18 Years – 100 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

* INCLUSION CRITERIA: * 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. EXCLUSION CRITERIA: * 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 who…

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

To study the pathogenesis of CADASIL through comprehensive clinical evaluations and molecular studies on biospecimens collected under this protocol from affected and unaffected cohorts (as reference biospecimens).

Timeframe: 2 years

Trial details

NCT IDNCT02821780

SponsorNational Heart, Lung, and Blood Institute (NHLBI)

Sponsor typeNIH

Study typeOBSERVATIONAL

Primary completion2022-05-03

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