Actively Recruiting
Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System
Led by National Heart, Lung, and Blood Institute (NHLBI) · Updated on 2026-05-05
5000
Participants Needed
3
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Background: \- Researchers are interested in studying individuals who have known or suspected metabolic, inflammatory or genetic diseases that may put them at a high risk for heart diseases or diseases of their blood vessels. Depending on the condition being studied, both affected and nonaffected individuals may be asked to provide blood and other samples and may undergo tests to evaluate the heart, blood vessels and lung function. The testing is tailored to the individual and/or condition being studied. Nonaffected individuals may include relatives of affected individuals and healthy nonrelated volunteers. Objectives: \- To study individuals who have or are at risk for cardiovascular diseases, and in some cases their unaffected relatives and healthy volunteers. Eligibility: \- Individuals between 1 and 100 years of age. Participants may be healthy volunteers, individuals with cardiovascular diseases, or unaffected relatives of individuals with cardiovascular diseases. Design: * Participants will have some or all of the following tests, as directed by the study researchers: * Photography of the face and full body * Body measurements * Radiography, including chest or limb x-rays * Metabolic stress testing to study heart and muscle function * Echocardiography to study heart function * Magnetic resonance imaging (MRI) studies, including cardiovascular MRI, angiography, and contrast MRI, to study heart function and performance * Computed tomography (CT) angiogram to obtain images of the heart and lungs * Positron emission tomography (PET) imaging to study possible fat infiltration of the heart * Six-minute walk test to study heart, lung, and muscle function and performance * Vascular ultrasound to study blood vessel walls * Blood, tissue, and other specimens will be collected for research and testing, and will be taken either as part of the clinical study or during surgical procedures. * Follow-up studies may be performed under separate research protocols.
CONDITIONS
Official Title
Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participants aged 1 year or older
- Individuals affected by metabolic, inflammatory, or genetic diseases linked to cardiovascular risk
- Relatives of affected individuals, including genetic carriers and non-carriers
- Healthy adult volunteers aged 18 years or older willing to provide and store blood or tissue samples for research
- Index cases with known or suspected cardiovascular dysfunction or genetic predisposition, evaluated by investigators
You will not qualify if you...
- Persons younger than 1 year or older than 100 years
- Healthy volunteers unable or unwilling to give informed consent or to have blood/tissue samples stored for research
- Pregnant women
- Individuals not fluent in English, unable to complete patient questionnaires
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 3 locations
1
Hope Center
Washington D.C., District of Columbia, United States, 20006
Actively Recruiting
2
Suburban Hospital
Bethesda, Maryland, United States, 20814
Completed
3
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
R
Rebecca D Huffstutler, C.R.N.P.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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