Natural History Study of CADASIL

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
National Heart, Lung, and Blood Institute (NHLBI)
Study ID
NCT05072483
Status
Recruiting
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Conditions

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

Eligibility Criteria

Sex
ALL
Age
18 Years - 100 Years
Healthy Volunteers
Accepted

Interventions

  • MRI — DEVICE
    Research pulse sequences.

Study Details

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.

Key Dates

Start date
Apr 18, 2022
Status verified
May 2026
Primary completion
Jun 1, 2034
Completion
Jun 1, 2041

Study Design

Enrollment
155 participants (estimated)

Arms

  • Arm: Healthy controls
    Healthy controls for exploratory analyses, where the measurements were not commonly performed previously in other populations, for qualitative comparison with CADASIL population
  • Arm: Subjects with CADASIL
    Adult genetically-confirmed patients with a wider range of CADASIL disease duration and debility

Primary Outcome Measure

This study will examine the pathogenesis of CADASIL through comprehensive clinical evaluations and molecular studies on biospecimens collected under this protocol from affected individuals. [ Time Frame: 13 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
[email protected]
800-411-1222

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By research site
National Institutes of Health Clinical Center· Bethesda, MD

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