Recruiting

Cardiovascular Assessment

Sponsor:

National Heart, Lung, and Blood Institute (NHLBI)

Code:

NCT01143454

Conditions

Metabolic Disease

Obesity

Li-Fraumeni Syndrome

Cardiomyopathy

Atherosclerosis

Eligibility Criteria

Sex: All

Age: 1 - 70+

Healthy Volunteers: Accepted

Interventions

NSR IDE-MRI: Research pulse sequences

Study Details

Brief summary:

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

Metabolic Disease

Obesity

Li-Fraumeni Syndrome

Cardiomyopathy

Atherosclerosis

Study ID

NCT01143454

Start date

Jul 21, 2010

Status verified date

Jun 29, 2026

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 1 - 70+

Healthy Volunteers: Accepted

  • INCLUSION CRITERIA:

Eligible subjects may include anyone over 1 year of age who is affected with diseases/disorders (index cases), or who is a relative of a person who is affected with diseases/disorders. Relatives may include genetic carriers and non-carriers.

  • Healthy adult volunteers must be 18 years of age or older, and must agree to have blood or tissue samples studied, and potentially stored for future research.
  • Index cases enrolled in this protocol will have been referred with a known or suspected pathology that may be associated with cardiovascular dysfunction or risk with a suspected atypical presentation, heritable disorder, or genetic predisposition. The investigator with expertise in the presentation of the subject, along with consulting specialists, will review the medical history and may review any medical records that are available of prospective subjects and offer admission based upon the potential to help the individual, to learn from the subject, or to initiate clinical or basic research suggested by the subject s workup.

EXCLUSION CRITERIA:

  • Persons of less than 1 year of age or greater than 100 years of age
  • Healthy volunteers unable to give informed consent or who decline to have blood and/or tissue studies, or who do not consent to have samples stored for future research may be excluded from this study.
  • Pregnant women
  • Persons who are not fluent in the English language will be excluded from Patient Reported Outcome Questionnaires. Such persons would be unable to properly complete questionnaires that are only valid in the English language.

Study Design

Enrollment

5000 participants

Anticipated

Interventions and Outcome Measures

Arms

1. Adult index cases and relatives

Enrolled with a known or suspected pathology that may be associated w/cardiovascular dysfunction or risk w/suspected atypical presentation, heritable disorder, or genetic predisposition.

2. Child index case and child relatives

Children over 1 year of age who is affected with diseases/disorders (index cases), or who is a relative of a person who is affected with diseases/disorders.

3. Healthy adult volunteers

Healthy adult volunteers must be 18 years of age or older, and must agree to have blood or tissue samples studied, and potentially stored for future research.

Interventions

NSR IDE-MRI: Research pulse sequences

NSR IDE-MRI: Research pulse sequences, Device Manufacturer NIH. Research pulse sequences are customized pulse sequences and analysis software developed by NIH scientists.

Primary outcome measure

  • Disease Diagnosis [ Time Frame: Ongoing ]

Central Contacts and Locations

Central contacts

Rebecca D Huffstutler, C.R.N.P.

(301) 594-1281rebecca.huffstutler@nih.gov

Locations

Hope Center

Recruiting

Washington D.C., District of Columbia, United States, 20006

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

800-411-1222ccopr@nih.gov

More Information

Sponsor

National Heart, Lung, and Blood Institute (NHLBI)

Last update posted

Sep 1, 2026

Last verified

Jun 29, 2026

Keywords

  • Cardiac Disease
  • iPS Cells
  • Cardiac Risk Factors
  • Cardiac Disease Discovery
  • Natural History
  • Heart Disease
  • Heart Disease Risk

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Heart, Lung, and Blood Institute (NHLBI) on 2026-09-01.