CADASIL Disease Discovery

NCT02821780 | Completed

• 2 other identifiers: 16013216-H-0132
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 2

Brief 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

Keywords

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

Outcome Measures

Primary Outcomes (1)

• 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).

  pathogenesis of CADASIL through comprehensive clinical evaluations and molecular studies on biospecimens

  2 years

Secondary Outcomes (1)

• Clinical evaluations will be used to determine whether disease progression can be assessed.

  2 years

Eligibility Criteria

• Age: 18 Years - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

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

You may qualify if:

• 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.

You may not qualify if:

• 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 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

Sponsors & Collaborators

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

Study Sites (2)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Nationwide Children s Hospital

Columbus, Ohio, 43205, United States

Location

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Cardiovascular Diseases; Stroke

Condition Hierarchy (Ancestors)

Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Vascular Diseases

Study Officials

• Manfred Boehm, M.D.

  National Heart, Lung, and Blood Institute (NHLBI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 29, 2016
• First Posted: July 4, 2016
• Study Start: October 18, 2016
• Primary Completion: May 3, 2022
• Study Completion: May 3, 2022
• Last Updated: April 14, 2026

Record last verified: 2025-09-19

Locations

US (2)