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Observational Study of Vascular Diseases and Genetic Predisposition

This is an observational study looking to understand diseases of the heart and blood vessels (vascular diseases), especially those linked to genetics. Researchers want to collect information and samples from people with these conditions, their family members, and healthy volunteers. The goal is to learn more about how these diseases develop, identify new genetic factors, and potentially find new ways to diagnose and treat them. You can participate if you are between 2 and 100 years old and have a suspected or known genetic condition affecting your heart or blood vessels, or if you are a relative of someone with such a condition, or a healthy volunteer. The study aims to quickly start new investigations to gather data and biological samples, helping to make diagnoses and deepen our understanding of these diseases.

Study design
This is an observational study with a planned enrollment of 1000 participants. It is not specified if it is randomized or blinded.
What's involved
You will be screened with a medical history, physical exams, and imaging tests. You may have a few visits or visits for 2 weeks or more, depending on your age and disease status.
Compensation
Not stated in the trial record.
Follow-up
The primary endpoint is the rapid initiation of new investigations, measured at ongoing timeframes. This suggests continuous data collection rather than a fixed follow-up period.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT03538639

Vascular Disease Discovery Protocol

Recruiting
Not specifiedAges 2+Observational
National Heart, Lung, and Blood Institute (NHLBI)
~1,000 participants
Updated 2026-08-21 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
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...
Measured over ongoing

Conditions

Vascular Dysfunction
Genetic Mutations
Genetic Predisposition

Explore related trials

Vascular Disorder

Where it's being run

1 sites across 1 states
Maryland1

Study leadership

  • Manfred Boehm, M.D. · PRINCIPAL_INVESTIGATOR · National Heart, Lung, and Blood Institute (NHLBI)

Who to contact

William R Whalen, C.R.N.P.
[email protected]
(301) 402-9841
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

All subjects must be between the ages of 2-100 years old.
Affected pregnant women if they have been referred with a known or suspected pathology or if they become pregnant while on study.
Unaffected related pregnant women (including spouses/partners) for cord blood and tissue collection (surgical waste) only at the time of delivery.

Exclusion

Healthy volunteers unable to give informed consent
Healthy volunteers who decline to have blood drawn and/or tissue studies or who do not consent to have samples stored for future research.
Cognitively impaired individuals who are not affected.
Cognitively impaired individuals not related to affected subjects.
Unaffected unrelated pregnant women.

What this trial measures

  • 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...ongoing

    Understanding of disease pathophysiology in subjects with uncommon vascular disease presentation.