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Protocol Details

Cardiovascular Disease Discovery Protocol

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Heart, Lung and Blood Institute (NHLBI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 1 Years
Max Age: 100 Years

Referral Letter Required


Population Exclusion(s)



Cardiac Disease;
iPS Cells;
Cardiac Risk Factors;
Cardiac Disease Discovery;
Natural History

Recruitment Keyword(s)

Heart Disease;
Cardiac Disease;
Heart Disease Risk


Li-Fraumeni Syndrome;
Parkinson's Disease;
Cardiovascular Capacity

Investigational Drug(s)


Investigational Device(s)



Drug: 11C-Acetate
Drug: 13N-Amonia

Supporting Site

National Heart, Lung and Blood Institute


- 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 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.

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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.


-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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Not Provided

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Principal Investigator

Referral Contact

For more information:

Michael N. Sack, M.D.
National Heart, Lung and Blood Institute (NHLBI)

Rebecca D. Huffstutler, C.R.N.P.
National Heart, Lung and Blood Institute (NHLBI)
NIHBC 10 - CRC BG RM 5-1462
(301) 594-1281

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1

Clinical Trials Number:


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