Vascular Disease Discovery Protocol
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|ClinicalTrials.gov Identifier: NCT03538639|
Recruitment Status : Recruiting
First Posted : May 29, 2018
Last Update Posted : April 1, 2021
Some genetic diseases put increase the risk of heart and blood diseases, which are the number one cause of death and disability in the U.S. Researchers want to study diseases of the heart and/or blood vessels. They want to collect data and specimens from affected people, their family members, and healthy people.
To study diseases of the heart and/or blood vessels.
People age 2 and older who may have genetic disease affecting the heart and/or blood vessels Their relatives
Participants will be screened with a medical history, physical exams, and imaging tests. Participants may have a few visits or visits for 2 weeks or more. This will depend on their age and disease status. Visits may include:
Photographs of the face and body
Samples taken of blood, urine, saliva, skin, and/or tissue
Scans. For some, a dye may be injected into a vein.
A six-minute walk test
Lung tests. For some, participants will blow into a tube. For others, they will breathe in a gas from a mask, have a small injection, then have a scan.
Stress tests while walking on a treadmill or riding a stationary bike
Ultrasound of veins and arteries
Devices outside the body testing the stiffness and function of arteries
Eye exam and eye tests. For some, a dye may be injected in a vein.
Blood pressure tests
Measurements of blood flow under the skin and in the arms and fingernail blood vessels
Devices outside the body testing flexibility of the blood vessels and skin, and skin temperature
|Condition or disease|
|Vascular Dysfunction Genetic Mutations Genetic Predisposition|
|Study Type :||Observational|
|Estimated Enrollment :||9999 participants|
|Official Title:||Vascular Disease Discovery Protocol|
|Actual Study Start Date :||July 30, 2018|
|Estimated Primary Completion Date :||November 30, 2027|
|Estimated Study Completion Date :||May 15, 2037|
Adult index cases (affected) and relatives (affected and unaffected)
Child index cases (affected) and child relatives (affected and unaffected)
Healthy adult volunteers
- Rapid initiation of new, disease-specific investigations to enable the collection of data and biospecimens on affected subjects, their family members and healthy controls, and to assist in the generation of diagnoses and further the understandin... [ Time Frame: Ongoing ]understanding of disease pathophysiology in subjects with uncommon vascular disease presentation
- improve diagnosis, identify biomarkers, develop outcome measures, create centers of expertise and provide the foundation for therapy development. [ Time Frame: ongoing ]improve diagnosis, identify biomarkers, develop outcome measures, create centers of expertise and provide the foundation for therapy development.
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): NCT03538639
|Contact: Elisa A Ferrante, Ph.D.||(301) firstname.lastname@example.org|
|United States, Maryland|
|National Institutes of Health Clinical Center||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 email@example.com|
|Principal Investigator:||Manfred Boehm, M.D.||National Heart, Lung, and Blood Institute (NHLBI)|