RECRUITING

Natural History Study of CADASIL

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Natural History Study of CADASIL

Quick Facts

Study Start:2022-04-18
Study Completion:2041-06-01
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT05072483

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:18 Years to 100 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:Yes
Standard Ages:ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. 1. Stated willingness to comply with all study procedures and availability for the duration of the study.
  2. 2. Male or female, aged 18 to 100 years (inclusive).
  3. 3. Established diagnosis of CADASIL or NOTCH3 mutations, as determined by genetic testing.
  4. 4. Healthy controls.
  1. 1. Pregnancy or nursing at time of consent.
  2. 2. Subjects who lack capacity to consent and don't have a legally authorized representative.
  3. 3. Subjects who decline to provide samples for blood and/or tissue studies.
  4. 4. Subjects who do not speak English.
  5. 5. Subjects whose scans or examinations show unexpected brain conditions (outside of CADASIL) which would interfere with interpretation of testing.
  6. 6. Subjects unable to undergo an MRI scan or subjects meeting the following criteria:
  7. * 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
  8. * Subjects with ferromagnetic dental bridges or crowns (exclusion only for 7.0T)
  9. * Subjects unable to remain supine for the expected length of the MRI (i.e., up to 1 hour)
  10. * Subjects with uncontrolled head movements
  11. * 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.

Contacts and Locations

Study Contact

Jayson J Grey, R.N.
CONTACT
(301) 318-0338
jayson.grey@nih.gov
Elisa A Ferrante Brenlla, Ph.D.
CONTACT
(301) 402-3577
elisa.ferrante@nih.gov

Principal Investigator

Elisa A Ferrante Brenlla, Ph.D.
PRINCIPAL_INVESTIGATOR
National Heart, Lung, and Blood Institute (NHLBI)

Study Locations (Sites)

National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
United States

Collaborators and Investigators

Sponsor: National Heart, Lung, and Blood Institute (NHLBI)

  • Elisa A Ferrante Brenlla, Ph.D., PRINCIPAL_INVESTIGATOR, National Heart, Lung, and Blood Institute (NHLBI)

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2022-04-18
Study Completion Date2041-06-01

Study Record Updates

Study Start Date2022-04-18
Study Completion Date2041-06-01

Terms related to this study

Keywords Provided by Researchers

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

Additional Relevant MeSH Terms

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