Natural History Study of CADASIL

This study is looking at CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy), a genetic disorder that affects small blood vessels and can lead to strokes and dementia. Researchers want to understand how CADASIL develops and changes over time by observing people with the condition. They will use MRI (magnetic resonance imaging) scans to look at blood vessels. The study aims to understand the disease's progression through detailed medical evaluations and studies of blood and urine samples. You may be able to join if you are an adult aged 18 or older with CADASIL, or a healthy volunteer. The study's success will be measured by how well it helps researchers understand the disease's development over 13 years. The current recruitment status is unclear.

Study design
This is an observational study, meaning participants will be monitored over time without receiving new treatments. It plans to enroll up to 110 individuals with CADASIL and up to 45 healthy control subjects.
What's involved
You would have 4 study visits over 9 years, each lasting 6-8 hours per day for 2-4 days. You would provide blood and urine samples, have an electrocardiogram (ECG) to check your heart's electrical activity, and complete a family tree.
Compensation
Not stated in the trial record.
Follow-up
The primary goal of understanding the disease's development will be measured at 13 years.

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NCT05072483

Natural History Study of CADASIL

Recruiting
Not specifiedAges 18+Observational
National Heart, Lung, and Blood Institute (NHLBI)
~155 participants
Updated 2026-08-21 on ClinicalTrials.gov
What's tested:MRI

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
This study will examine the pathogenesis of CADASIL through comprehensive clinical evaluations and molecular studies on biospecimens collected under this protocol from affected individuals.
Measured over 13 years
Cardiovascular Disease
Arterial Stiffness
Germline Mutation in the NOTCH 3 Gene
Pathogenesis of CADASIL
Clinical Phenotype of CADASIL
1 sites across 1 states
Maryland1
  • Elisa A Ferrante Brenlla, Ph.D. · PRINCIPAL_INVESTIGATOR · National Heart, Lung, and Blood Institute (NHLBI)

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Eligibility criteria

Exclusion

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

    To study the pathogenesis of CADASIL and obtain clinical evaluations and biospecimens from affected cohorts to identify underlying disease mechanism(s).