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

NCT01143454 | Recruiting

• 2 other identifiers: 10012610-H-0126
• Study Type: observational
• Target: 5,000
• Locations: 1 country
• Sites: 3

Brief Summary

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:

• 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.

Conditions

Metabolic Disease; Obesity; Li-Fraumeni Syndrome; Cardiomyopathy; Atherosclerosis; Inflammatory Disease

Keywords

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

Outcome Measures

Primary Outcomes (1)

• 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.

  Ongoing

Secondary Outcomes (2)

• Potential genetic counseling

  Ongoing

• Understanding disease pathophysiolgy

  Ongoing

Study Arms (3)

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.

Device: NSR IDE-MRI: Research pulse sequences

2. Child index case and child relatives

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

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.

Interventions

NSR IDE-MRI: Research pulse sequences DEVICE

NSR IDE-MRI: Research pulse sequences, Device Manufacturer NIH. Research pulse sequences are customized pulse sequences and analysis software developed by NIH scientists.

1. Adult index cases and relatives; 2. Child index case and child relatives

Eligibility Criteria

• Age: 1 Year - 100 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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 cases 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• National Heart, Lung, and Blood Institute (NHLBI): lead

Study Sites (3)

Hope Center

Washington D.C., District of Columbia, 20006, United States

RECRUITING

Suburban Hospital

Bethesda, Maryland, 20814, United States

COMPLETED

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (2)

• Han K, Singh K, Meadows AM, Sharma R, Hassanzadeh S, Wu J, Goss-Holmes H, Huffstutler RD, Teague HL, Mehta NN, Griffin JL, Tian R, Traba J, Sack MN. Boosting NAD preferentially blunts Th17 inflammation via arginine biosynthesis and redox control in healthy and psoriasis subjects. Cell Rep Med. 2023 Sep 19;4(9):101157. doi: 10.1016/j.xcrm.2023.101157. Epub 2023 Aug 15.

  PMID: 37586364 DERIVED

• Han K, Singh K, Rodman MJ, Hassanzadeh S, Wu K, Nguyen A, Huffstutler RD, Seifuddin F, Dagur PK, Saxena A, McCoy JP, Chen J, Biancotto A, Stagliano KER, Teague HL, Mehta NN, Pirooznia M, Sack MN. Fasting-induced FOXO4 blunts human CD4+ T helper cell responsiveness. Nat Metab. 2021 Mar;3(3):318-326. doi: 10.1038/s42255-021-00356-0. Epub 2021 Mar 15.

  PMID: 33723462 DERIVED

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Metabolic Diseases; Obesity; Li-Fraumeni Syndrome; Cardiomyopathies; Atherosclerosis; Heart Diseases

Condition Hierarchy (Ancestors)

Nutritional and Metabolic Diseases; Overweight; Overnutrition; Nutrition Disorders; Body Weight; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Neoplastic Syndromes, Hereditary; Neoplasms; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; DNA Repair-Deficiency Disorders; Cardiovascular Diseases; Arteriosclerosis; Arterial Occlusive Diseases; Vascular Diseases

Study Officials

• Michael N Sack, M.D.

  National Heart, Lung, and Blood Institute (NHLBI)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Rebecca D Huffstutler, C.R.N.P.

CONTACT

(301) 594-1281; rebecca.huffstutler@nih.gov

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 11, 2010
• First Posted: June 14, 2010
• Study Start: July 21, 2010
• Last Updated: June 12, 2026

Record last verified: 2026-06-10

Locations

US (3)