NIH Clinical Center Search the Studies: Study Number, Study Title

Protocol Details

Vascular Disease Discovery Protocol

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Heart, Lung and Blood Institute (NHLBI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 2 Years
Max Age: 100 Years

Referral Letter Required


Population Exclusion(s)


Special Instructions

Currently Not Provided


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

Recruitment Keyword(s)



Vascular Dysfunction;
Genetic Mutations;
Genetic Predisposition

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Heart, Lung, and Blood Institute


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

--Back to Top--



-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.

--Back to Top--


Not Provided

--Back to Top--


Principal Investigator

Referral Contact

For more information:

Manfred Boehm, M.D.
National Heart, Lung and Blood Institute (NHLBI)

Elisa A. Ferrante, Ph.D.
National Heart, Lung and Blood Institute (NHLBI)
National Institutes of Health
Building 10
Room 5-3232
10 Center Drive
Bethesda, Maryland 20892
(301) 402-3577

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: 1-866-411-1010

Clinical Trials Number:


--Back to Top--