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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01143454
Recruitment Status : Recruiting
First Posted : June 14, 2010
Last Update Posted : August 22, 2018
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) )

Brief Summary:


- 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 2 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.

Condition or disease
Cardiac Disease

Detailed Description:
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 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 Center for Molecular Medicine (CMM) and the Cardiovascular and Pulmonary Branch (CPB) 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.

Study Type : Observational
Estimated Enrollment : 100099 participants
Time Perspective: Other
Official Title: Cardiovascular Disease Discovery Protocol
Study Start Date : May 14, 2010

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Heart Diseases

Information from the National Library of Medicine

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Ages Eligible for Study:   2 Years to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

Eligible subjects may include anyone over 2 years of age who is affected with diseases/disorders (index cases), or who is a relative of a person who is affected with diseases/disorders.

  • Pregnant women are eligible to participate in this study if they have been referred with a known or suspected pathology, if they are a relative of an index case with a known or suspected pathology, or if they are healthy volunteers (for blood, urine, saliva, or buccal swab only).
  • 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 records 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 2 years 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.
  • Healthy volunteers who are pregnant or nursing will be excluded from all procedures with the exception of blood, urine, saliva, and/or buccal swab collection.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01143454

Contact: Rebecca D Huffstutler, C.R.N.P. (301) 594-1281
Contact: Michael N Sack, M.D. (301) 402-9259

United States, Maryland
Suburban Hospital Recruiting
Bethesda, Maryland, United States, 20814
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)    800-411-1222 ext TTY8664111010   
Sponsors and Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
Principal Investigator: Michael N Sack, M.D. National Heart, Lung, and Blood Institute (NHLBI)

Additional Information:
Responsible Party: National Heart, Lung, and Blood Institute (NHLBI) Identifier: NCT01143454     History of Changes
Other Study ID Numbers: 100126
First Posted: June 14, 2010    Key Record Dates
Last Update Posted: August 22, 2018
Last Verified: August 10, 2018

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) ):
Cardiac Disease
iPS Cells
Cardiac Risk Factors
Cardiac Disease Discovery
Heart Disease
Heart Disease Risk

Additional relevant MeSH terms:
Heart Diseases
Cardiovascular Diseases