Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System
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|ClinicalTrials.gov Identifier: NCT01143454|
Recruitment Status : Recruiting
First Posted : June 14, 2010
Last Update Posted : October 31, 2018
- 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|
|Li-Fraumeni Syndrome Parkinson's Disease Atherosclerosis Cardiovascular Capacity|
|Study Type :||Observational|
|Estimated Enrollment :||100099 participants|
|Official Title:||Cardiovascular Disease Discovery Protocol|
|Actual Study Start Date :||July 21, 2010|
1. Adult index cases and relatives
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.
2. Child index case and child relatives
Children 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.
3. Healthy adult volunteers
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.
- Disease Diagnosis [ Time Frame: Ongoing ]This protocol will complement the aims of the Undiagnosed Diseases Program (UDP), which may admit some of its subjects through this protocol, to provide answers to subjects with conditions associated with cardiovascular features that may have long eluded diagnosis and to advance medical knowledge about rare and uncommon human diseases.
- Understanding disease pathophysiolgy [ Time Frame: Ongoing ]to assist in the understanding of disease pathophysiology and in the generation of diagnoses in subjects with uncommon presentations of diseases with cardiovascular consequences.
- Potential genetic counseling [ Time Frame: Ongoing ]Determining molecular etiology of diseases encountered on this protocol
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 ClinicalTrials.gov identifier (NCT number): NCT01143454
|Contact: Rebecca D Huffstutler, C.R.N.P.||(301) firstname.lastname@example.org|
|Contact: Michael N Sack, M.D.||(301) email@example.com|
|United States, Maryland|
|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 firstname.lastname@example.org|
|Principal Investigator:||Michael N Sack, M.D.||National Heart, Lung, and Blood Institute (NHLBI)|