Cardiovascular Disease Discovery Protocol

  • participants needed
  • sponsor
    National Heart, Lung, and Blood Institute (NHLBI)
Updated on 21 October 2022
cardiovascular disease
ct scan
walk test
heart disease
positron emission tomography
Accepts healthy volunteers


  • Researchers are interested in studying individuals who have known or suspected metabolic or genetic diseases that put them at a high risk for heart diseases or diseases of their blood vessels. To improve the results of the study, both affected and nonaffected individuals will be asked to provide blood and other samples and will undergo tests to evaluate heart and lung function. Nonaffected individuals will include relatives of affected individuals and healthy nonrelated volunteers.
  • To study individuals who have or are at risk for cardiovascular diseases, as well as their unaffected relatives and healthy volunteers.
  • 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.
  • Participants will have some or all of the following tests, as directed by the study
  • 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.


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.

Condition Cardiomyopathy, Li-Fraumeni Syndrome, Parkinson's Disease, Atherosclerosis, Cardiovascular Capacity
Clinical Study IdentifierNCT01143454
SponsorNational Heart, Lung, and Blood Institute (NHLBI)
Last Modified on21 October 2022


Yes No Not Sure

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 case subjects 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
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How to participate?

Step 1 Connect with a study center
What happens next?
  • You can expect the study team to contact you via email or phone in the next few days.
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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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