An observational study in Metabolic Disease, Obesity and Li-Fraumeni Syndrome, sponsored by National Heart, Lung, and Blood Institute (NHLBI). Recruiting at 3 sites in United States. Open to participants aged 1 Year to 100 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-11-04.
Sponsored by National Heart, Lung, and Blood Institute (NHLBI) · Observational
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:
We propose to characterize the etiology and natural history of rare and uncommon diseases, both known and unknown that present with symptoms and signs associated with the risk of overt or potential cardiovascular dysfunction. We will also study rare genetic modifiers and identify novel disease mechanisms contributing to common cardiovascular diseases. In so doing, we will expand our knowledge about these disorders and provide access to subjects of interest for research, teaching, and clinical experience. Individual subjects seen under this protocol may initiate the establishment of specific disease-related protocols involving intensive natural history studies, disease discovery and potential innovative therapeutic studies. In addition to its role in investigating individuals who are of interest to the Cardiovascular Branch (CB) of the NHLBI, this protocol can provide a possible avenue for admitting subjects from other NIH programs such as the NIH Undiagnosed Diseases Program, the Center for Human Immunology Trans-institute program or other NIH protocols where subjects exhibit cardiovascular features.
25 studies on the registry are indexed under Li-Fraumeni Syndrome; 16 are open to participants now.
This study's planned enrollment of 5,000 is above the median of 439 across 18 observational studies indexed under Li-Fraumeni Syndrome.
Browse Li-Fraumeni Syndrome studies →National Heart, Lung, and Blood Institute (NHLBI) is the lead sponsor of 1,143 studies on the registry; 71 are open to participants now.
Of its 58 completed or terminated interventional studies of FDA-regulated products, 51 (88%) have results posted.
Compared within Li-Fraumeni Syndrome, this study's primary condition as ClinicalTrials.gg classifies it; the registry's first condition term is Metabolic Diseases. The counts are of registry records indexed under each term, refreshed daily. How we classify →
1. Adult index cases and relatives 2. Child index case and child relatives 3. Healthy adult volunteers 4. Illiterate, Blind, or Non-English-Speaking Subjects
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
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.
EXCLUSION CRITERIA:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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.
Device: NSR IDE-MRI: Research pulse sequences
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.
Device: NSR IDE-MRI: Research pulse sequences
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.
NSR IDE-MRI: Research pulse sequences, Device Manufacturer NIH. Research pulse sequences are customized pulse sequences and analysis software developed by NIH scientists.
Disease Diagnosis
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.
Time frame: Ongoing
Potential genetic counseling
Determining molecular etiology of diseases encountered on this protocol
Time frame: Ongoing
Understanding disease pathophysiolgy
Assist in the understanding of disease pathophysiology and in the generation of diagnoses in subjects with uncommon presentations of diseases with cardiovascular consequences.
Time frame: Ongoing
Not enrolling at this site.
Plan to share: Undecided
Started Jul 2010 (actual).
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
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National Heart, Lung, and Blood Institute (NHLBI) →