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
|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
||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|
|Current Secondary Outcome Measures
|Original Secondary Outcome Measures||Not Provided|
|Current Other Pre-specified Outcome Measures||Not Provided|
|Original Other Pre-specified Outcome Measures||Not Provided|
|Brief Title||Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System|
|Official Title||Cardiovascular Disease Discovery Protocol|
- 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.
|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 Design||Observational Model: Case-Control
Time Perspective: Prospective
|Target Follow-Up Duration||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.|
|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.
|Original Estimated Enrollment
|Study Completion Date||Not Provided|
|Primary Completion Date||Not Provided|
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.
|Ages||1 Year to 100 Years (Child, Adult, Older Adult)|
|Accepts Healthy Volunteers||Yes|
|Listed Location Countries||United States|
|Removed Location Countries|
|Other Study ID Numbers||100126
|Has Data Monitoring Committee||Not Provided|
|U.S. FDA-regulated Product||
|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)|
|PRS Account||National Institutes of Health Clinical Center (CC)|
|Verification Date||October 27, 2020|