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Observational Study of Cardiovascular Conditions

This is an observational study looking at people with unusual heart or blood vessel problems, or those at high risk for these conditions due to metabolic (how your body uses energy), inflammatory, or genetic diseases. Researchers are using a special type of MRI called NSR IDE-MRI, which uses customized research pulse sequences developed by NIH scientists, to learn more about these conditions. The goal is to better understand rare and uncommon diseases that affect the heart and blood vessels. You can join if you are over 1 year old and have one of these conditions, or if you are a relative of someone who does. Healthy adults aged 18 or older can also participate. The study is ongoing and aims to diagnose these conditions.

Study design
This is an observational study with a planned enrollment of 5000 participants. It is not a treatment study, but rather aims to characterize diseases.
What's involved
You may be asked to provide blood and other samples, and undergo tests to evaluate your heart, blood vessels, and lung function. The specific tests will be tailored to you and your condition.
Compensation
Not stated in the trial record.
Follow-up
The primary endpoint, disease diagnosis, is measured as ongoing, meaning participants may be followed over time.

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

NCT01143454

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

Recruiting
Not specifiedAges 1+Observational
National Heart, Lung, and Blood Institute (NHLBI)
~5,000 participants
Updated 2026-08-28 on ClinicalTrials.gov
What's tested:NSR IDE-MRI: Research pulse sequences

At a glance

Recruiting sites
2 of 3 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Disease Diagnosis
Measured over Ongoing

Conditions

Metabolic Disease
Obesity
Li-Fraumeni Syndrome
Cardiomyopathy
Atherosclerosis
Inflammatory Disease

Explore related trials

AtherosclerosisCardiomyopathyHeart DisorderInflammatory DisorderLi-Fraumeni SyndromeMetabolic DisorderObesity

Where it's being run

3 sites across 2 states
Maryland2
District of Columbia1

Study leadership

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

Who to contact

Rebecca D Huffstutler, C.R.N.P.
[email protected]
(301) 594-1281
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

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

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.

What this trial measures

  • Disease DiagnosisOngoing

    This protocol will allow condition-specific evaluation and sample collection to subjects with conditions associated with cardiovascular features and risk that may have long eluded diagnosis and to advance medical knowledge about rare and uncommon human diseases.