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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 : May 27, 2021
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) )

Tracking Information
First Submitted Date June 11, 2010
First Posted Date June 14, 2010
Last Update Posted Date May 27, 2021
Actual Study Start Date July 21, 2010
Primary Completion Date Not Provided
Current Primary Outcome Measures
 (submitted: October 30, 2018)
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.
Original Primary Outcome Measures Not Provided
Change History
Current Secondary Outcome Measures
 (submitted: October 30, 2018)
  • 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
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System
Official Title Cardiovascular Disease Discovery Protocol
Brief Summary

Background:

- 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.

Objectives:

- To study individuals who have or are at risk for cardiovascular diseases, as well as 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.
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
Study Design Observational Model: Case-Control
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
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.
Condition
  • Cardiomyopathy
  • Li-Fraumeni Syndrome
  • Parkinson's Disease
  • Atherosclerosis
  • Cardiovascular Capacity
Intervention Not Provided
Study Groups/Cohorts
  • 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 1 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.
Publications * 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.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: November 1, 2017)
100099
Original Estimated Enrollment
 (submitted: June 11, 2010)
500
Study Completion Date Not Provided
Primary Completion Date Not Provided
Eligibility Criteria
  • 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.

  • 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 and nursing women.
Sex/Gender
Sexes Eligible for Study: All
Ages 1 Year to 100 Years   (Child, Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contacts
Contact: Rebecca D Huffstutler, C.R.N.P. (301) 594-1281 rebecca.huffstutler@nih.gov
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT01143454
Other Study ID Numbers 100126
10-H-0126
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement Not Provided
Responsible Party National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) )
Study Sponsor National Heart, Lung, and Blood Institute (NHLBI)
Collaborators Not Provided
Investigators
Principal Investigator: Michael N Sack, M.D. National Heart, Lung, and Blood Institute (NHLBI)
PRS Account National Institutes of Health Clinical Center (CC)
Verification Date October 27, 2020