Vascular DysfunctionNCT03538639
Vascular Disease Discovery Protocol
An observational study of Vascular Dysfunction and Genetic Mutations, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
Trial summary
Background: 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. Read more about this study
- Who is it for?
- Ages 2 to 100 yearsHealthy volunteers can take part
- Conditions the study is for
- Vascular Dysfunction, Genetic Mutations, Genetic Predisposition
- How many people
- 1,000 participants
- Where
- 1 siteUnited States
- Study dates
- 30 Jul 2018to 15 May 2037
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 100 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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
Who may be able to join
- 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.
Who cannot join
- 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.
- Unaffected unrelated pregnant women.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
NIH Clinical Center Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY dial 711, ccopr@nih.gov
About this study
Background:
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.
Read more
Objective:
To study diseases of the heart and/or blood vessels.
Eligibility:
People age 2 and older who may have genetic disease affecting the heart and/or blood vessels Their relatives
Healthy volunteers
Design:
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
Read the 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.
- Keywords
- 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
- Medical subject headings
- Genetic Predisposition to Disease, Undiagnosed Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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...
Understanding of disease pathophysiology in subjects with uncommon vascular disease presentation.
Measured: ongoing
Secondary outcomes (1)
to improve diagnosis, identify biomarkers, develop outcome measures, create centers of expertise and provide the foundation for therapy development. Clinically indicated procedures may yield data that can be used to support or guide research obj...
to improve diagnosis, identify biomarkers, develop outcome measures, create centers of expertise and provide the foundation for therapy development. Clinically indicated procedures may yield data that can be used to support or guide research objectives.
Measured: ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 May 2018
- Study start30 Jul 2018
- Primary completion30 Nov 2027 (estimated)
- Study completion15 May 2037 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Vascular DysfunctionStudies of the same condition, open and under way.
- More trials run by National Heart, Lung, and Blood Institute (NHLBI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Manfred Boehm, M.D., Principal investigator, National Heart, Lung, and Blood Institute (NHLBI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03538639
- Sponsor's protocol ID
- 180108
- Other IDs
- 18-H-0108
- Status last verified
- 16 Oct 2026
- First submitted
- 25 May 2018
- Last updated
- 26 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: It is not yet known
Study at a glance
From the registry record, last updated by the sponsor on 26 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Vascular Disease Discovery Protocol
- ClinicalTrials.gov ID
- NCT03538639
- Acronym / sponsor ID
- 180108
- Keywords
- 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
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)US National Institutes of Health
- Study start
- 30 Jul 2018 (actual)
- Primary completion
- 30 Nov 2027 (estimated)
- Study completion
- 15 May 2037 (estimated)
- First posted
- 29 May 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Background:
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.
Objective:
To study diseases of the heart and/or blood vessels.
Eligibility:
People age 2 and older who may have genetic disease affecting the heart and/or blood vessels Their relatives
Healthy volunteers
Design:
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
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.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Ages
- 2 to 100 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (5 listed)
- 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.
- Unaffected unrelated pregnant women.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
1 secondary outcome
to improve diagnosis, identify biomarkers, develop outcome measures, create centers of expertise and provide the foundation for therapy development. Clinically indicated procedures may yield data that can be used to support or guide research obj...
Time frame: ongoing
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Oct 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided. It is not yet known
Related trials for Vascular Dysfunction
RecruitingObservational study
Development and Validation of Risk Prediction Models for Stroke and Cognitive Impairment in Moyamoya Disease and Moyamoya Syndrome
Moyamoya Disease, Moyamoya Syndrome
RecruitingObservational study
Natural History Study of Biomarkers in Pulmonary Arterial Hypertension
Pulmonary Disease, Pulmonary Hypertension
RecruitingObservational study
Prevalence of Gastric Motor Dysfunction and Upper GI Symptoms in Gastric Antral Vascular Ectasias
Gastric Antral Vascular Ectasia, Cirrhosis
Active, not recruitingObservational study
The DISCOVER INOCA Prospective Multi-center Registry
Ischemia and No Obstructive Coronary Artery Disease, Coronary Microvascular Dysfunction
RecruitingObservational study
Samples From Human Subjects to Facilitate Basic, Translational and Clinical Research
Endothelial Dysfunction, Inflammation in Cardiopulmonary and Vascular Disease States
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Manfred Boehm, M.D. principal investigator
National Heart, Lung, and Blood Institute (NHLBI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Vascular Dysfunction and Genetic Mutations, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 26 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Ruth C Brower, R.N. ((301) 443-6036, ruth.brower@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Oct 2026.