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Vascular Disease Discovery Protocol

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03538639
Recruitment Status : Recruiting
First Posted : May 29, 2018
Last Update Posted : May 26, 2023
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) )

Brief Summary:


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

Healthy volunteers


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

Heart tests

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

Detailed Description:
The NIH provides a unique opportunity for research scientists to participate in the bench-to-bedside process, which is essential for the full implementation of translational medicine programs. The study of rare monogenetic and undiagnosed diseases is a complex bedside-to-bench-to-bedside endeavor. Recent studies show that rare genetic variants are more likely than common variants to have deleterious effects on protein structure, function, and/or expression, possibly leading to clinically relevant events. Studies of large patient populations offer the opportunity to identify rare genetic variants underlying human disease and will have impactful implications for human health. We propose to characterize the etiology and natural history of rare and orphan diseases with vascular phenotypes. We will also study rare genetic modifiers and identify novel disease mechanisms contributing to common vascular diseases. Subsequent disease-related protocols may be developed based on findings from subjects enrolled in this protocol for further intensive natural history studies and potential innovative therapeutic studies. In addition to its role in investigating individuals who are of interest to the Translational Vascular Medicine Branch (TVMB) 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 vascular phenotypes.

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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Case-Control
Time Perspective: Prospective
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

Resource links provided by the National Library of Medicine

Adult index cases (affected) and relatives (affected and unaffected)
Child index cases (affected) and child relatives (affected and unaffected)
Healthy adult volunteers

Primary Outcome Measures :
  1. 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.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   2 Years to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
We expect to enroll an unlimited number of subjects. The study population will be divided into groups that reflect both the potential studies that may be performed in distinct groups and the risk to benefit analysis for these groups. The appendices at the end of the protocol describe possible procedures and risk profiles for all the study subjects. Vulnerable populations, including pregnant women, children and cognitively impaired persons, may participate in this study. The groups include: 1.Adult index cases (affected) and relatives (affected and unaffected) 2.Child index cases (affected) and child relatives (affected and unaffected) 3.Healthy adult volunteers
  • All subjects must be between the ages of 2-100 years old.
  • Affected pregnant women if they have been referred with a known or suspected pathology or if they become pregnant while on study.
  • Unaffected related pregnant women (including spouses/partners) for cord blood and tissue collection (surgical waste) only at the time of delivery.


  • Healthy volunteers unable to give informed consent
  • Healthy volunteers who decline to have blood drawn and/or tissue studies or who do not consent to have samples stored for future research.
  • Cognitively impaired individuals who are not affected.
  • Cognitively impaired individuals not related to affected subjects.

Information from the National Library of Medicine

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 identifier (NCT number): NCT03538639

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Contact: Elisa A Ferrante Brenlla, Ph.D. (301) 402-3577
Contact: Manfred Boehm, M.D. (301) 435-7211

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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   
Sponsors and Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
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Principal Investigator: Manfred Boehm, M.D. National Heart, Lung, and Blood Institute (NHLBI)
Additional Information:
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Responsible Party: National Heart, Lung, and Blood Institute (NHLBI) Identifier: NCT03538639    
Other Study ID Numbers: 180108
First Posted: May 29, 2018    Key Record Dates
Last Update Posted: May 26, 2023
Last Verified: April 24, 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Plan Description: .It is not yet known

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) ):
Etiology of Rare and Orphan Diseases with Vascular Phenotype
Natural History of Rare and Orphan Diseases with Vascular Phenotype
Pathophysiology of Uncommon Vascular Diseases
Undiagnosed Diseases
Rare Human Diseases with Vascular Features
Natural History
Additional relevant MeSH terms:
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Vascular Diseases
Genetic Predisposition to Disease
Cardiovascular Diseases
Disease Susceptibility
Disease Attributes
Pathologic Processes