Vascular Disease Discovery Protocol
- Conditions
- Genetic PredispositionVascular DysfunctionGenetic Mutations
- Registration Number
- NCT03538639
- 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
- 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.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 1000
Not provided
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method 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... ongoing Understanding of disease pathophysiology in subjects with uncommon vascular disease presentation.
- Secondary Outcome Measures
Name Time Method 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 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.
Trial Locations
- Locations (1)
National Institutes of Health Clinical Center
🇺🇸Bethesda, Maryland, United States