Vascular Disease Discovery Protocol

NCT03538639 | Recruiting

• 2 other identifiers: 18010818-H-0108
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief 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. 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

Conditions

Genetic Mutations; Genetic Predisposition; Vascular Dysfunction

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

Outcome Measures

Primary Outcomes (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...

  Understanding of disease pathophysiology in subjects with uncommon vascular disease presentation.

  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...

  ongoing

Study Arms (3)

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

Eligibility Criteria

• Age: 2 Years - 100 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• National Heart, Lung, and Blood Institute (NHLBI): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Genetic Predisposition to Disease; Undiagnosed Diseases

Condition Hierarchy (Ancestors)

Disease Susceptibility; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Manfred Boehm, M.D.

  National Heart, Lung, and Blood Institute (NHLBI)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

William R Whalen, C.R.N.P.

CONTACT

(301) 402-9841; william.whalen@nih.gov

Manfred Boehm, M.D.

CONTACT

(301) 435-7211; boehmm@nhlbi.nih.gov

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 25, 2018
• First Posted: May 29, 2018
• Study Start: July 30, 2018
• Primary Completion (Estimated): November 30, 2027
• Study Completion (Estimated): May 15, 2037
• Last Updated: May 1, 2026

Record last verified: 2026-04-29

Locations

US (1)