Vascular Disease Discovery Protocol

Conditions:Other Indications, Cardiology
Therapuetic Areas:Cardiology / Vascular Diseases, Other
Age Range:2 - 100
Start Date:July 30, 2018
End Date:November 30, 2037
Contact:Elisa A Ferrante, Ph.D.
Phone:(301) 451-3457

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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

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


- Affected or unaffected adult and child cohorts (including genetic carriers or
non-carriers as reference biospecimen) are eligible.

- Pregnant and nursing women are eligible to participate in this study if they have been
referred with a known or suspected pathology, if they are a relative of an index case
with a known or suspected pathology.

- Healthy pregnant and nursing women may participate as healthy volunteers for minimal
risk procedures

- Healthy adult volunteers must be 18 years of age or older, must agree to have blood or
tissue samples studied and potentially stored for future research.

- Unaffected and unrelated children above 2 years of age are eligible to participate in
this study as healthy volunteers


- Healthy volunteers unable to give informed consent or who decline to have blood drawn
and/or tissue studies or who do not consent to have samples stored for future research
may be excluded from this study.

- Healthy volunteers who are pregnant or nursing will be excluded from procedures that
would expose them to more than minimal risk as well as to radiation exposure.

- Cognitively impaired individuals who are not affected or not related to affected
We found this trial at
9000 Rockville Pike
Bethesda, Maryland 20892
Phone: 800-411-1222
National Institutes of Health Clinical Center The National Institutes of Health (NIH) Clinical Center in...
Bethesda, MD
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