An observational study in Vascular Dysfunction, Genetic Mutations and Genetic Predisposition, sponsored by National Heart, Lung, and Blood Institute (NHLBI). Recruiting at 1 site in United States. Open to participants aged 2 Years to 100 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-11-09.
Sponsored by National Heart, Lung, and Blood Institute (NHLBI) · Observational
Background:
Some genetic diseases put increase the risk of heart and blood diseases, which are the number one cause of death and disability in the U.S. Researchers want to study diseases of the heart and/or blood vessels. They want to collect data and specimens from affected people, their family members, and healthy people.
Objective:
To study diseases of the heart and/or blood vessels.
Eligibility:
People age 2 and older who may have genetic disease affecting the heart and/or blood vessels Their relatives
Healthy volunteers
Design:
Participants will be screened with a medical history, physical exams, and imaging tests. Participants may have a few visits or visits for 2 weeks or more. This will depend on their age and disease status. Visits may include:
Photographs of the face and body
Heart tests
Samples taken of blood, urine, saliva, skin, and/or tissue
Scans. For some, a dye may be injected into a vein.
A six-minute walk test
Lung tests. For some, participants will blow into a tube. For others, they will breathe in a gas from a mask, have a small injection, then have a scan.
Stress tests while walking on a treadmill or riding a stationary bike
Ultrasound of veins and arteries
Devices outside the body testing the stiffness and function of arteries
Eye exam and eye tests. For some, a dye may be injected in a vein.
Blood pressure tests
Measurements of blood flow under the skin and in the arms and fingernail blood vessels
Devices outside the body testing flexibility of the blood vessels and skin, and skin temperature
The NIH provides a unique opportunity for research scientists to participate in the bench-to-bedside process, which is essential for the full implementation of translational medicine programs. The study of rare monogenetic and undiagnosed diseases is a complex bedside-to-bench-to-bedside endeavor. Recent studies show that rare genetic variants are more likely than common variants to have deleterious effects on protein structure, function, and/or expression, possibly leading to clinically relevant events. Studies of large patient populations offer the opportunity to identify rare genetic variants underlying human disease and will have impactful implications for human health. We propose to characterize the etiology and natural history of rare and orphan diseases with vascular phenotypes. We will also study rare genetic modifiers and identify novel disease mechanisms contributing to common vascular diseases. Subsequent disease-related protocols may be developed based on findings from subjects enrolled in this protocol for further intensive natural history studies and potential innovative therapeutic studies. In addition to its role in investigating individuals who are of interest to the Translational Vascular Medicine Branch (TVMB) of the NHLBI, this protocol can provide a possible avenue for admitting subjects from other NIH programs, such as the NIH Undiagnosed Diseases Program, the Center for Human Immunology Trans-institute program or other NIH protocols where subjects exhibit vascular phenotypes.
241 studies on the registry are indexed under Genetic Predisposition to Disease; 95 are open to participants now.
This study's planned enrollment of 1,000 is above the median of 500 across 154 observational studies indexed under Genetic Predisposition to Disease.
Browse Genetic Predisposition to Disease studies →National Heart, Lung, and Blood Institute (NHLBI) is the lead sponsor of 1,143 studies on the registry; 71 are open to participants now.
Of its 58 completed or terminated interventional studies of FDA-regulated products, 51 (88%) have results posted.
Counted across the registry records on this site, refreshed daily.
We expect to enroll an unlimited number of subjects. The study population will be divided into groups that reflect both the potential studies that may be performed in distinct groups and the risk to benefit analysis for these groups. The appendices at the end of the protocol describe possible procedures and risk profiles for all the study subjects. Vulnerable populations, including pregnant women, children and cognitively impaired persons, may participate in this study. The groups include: 1.Adult index cases (affected) and relatives (affected and unaffected) 2.Child index cases (affected) and child relatives (affected and unaffected) 3.Healthy adult volunteers
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
EXCLUSION CRITERIA:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Adult index cases (affected) and relatives (affected and unaffected)
Child index cases (affected) and child relatives (affected and unaffected)
Healthy adult volunteers
Rapid initiation of new, disease-specific investigations to enable the collection of data and biospecimens on affected subjects, their family members and healthy controls, and to assist in the generation of diagnoses and further the understandin...
Understanding of disease pathophysiology in subjects with uncommon vascular disease presentation.
Time frame: ongoing
to improve diagnosis, identify biomarkers, develop outcome measures, create centers of expertise and provide the foundation for therapy development. Clinically indicated procedures may yield data that can be used to support or guide research obj...
to improve diagnosis, identify biomarkers, develop outcome measures, create centers of expertise and provide the foundation for therapy development. Clinically indicated procedures may yield data that can be used to support or guide research objectives.
Time frame: ongoing
Plan to share: Undecided — It is not yet known
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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Genetic Predisposition to Disease →
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