Actively Recruiting

Age: 1Year - 100Years
All Genders
Healthy Volunteers
NCT01143454

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

Age: 1Year - 100Years
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

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
Not Eligible

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

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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

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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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