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RecruitingMetabolic DiseaseObesityLi-Fraumeni Syndrome

Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System

Eligible age

1–100 yrs

Accepts

All genders

Locations

2 states

Healthy volunteers

Yes

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About this study

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.

Sponsor: National Heart, Lung, and Blood Institute (NHLBI)

You may not qualify if…

  • ✕ 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.

Where it's recruiting

District of Columbia

Washington D.C.

Maryland

Bethesda

Source: ClinicalTrials.gov · NCT01143454 · last updated 2026-10-26

Characterization of Patients With Uncommon Presentations and/or Uncomm · TrialPath