Clinical Trials Logo

Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT03538639
Other study ID # 180108
Secondary ID 18-H-0108
Status Recruiting
Phase
First received
Last updated
Start date July 30, 2018
Est. completion date May 15, 2037

Study information

Verified date February 5, 2024
Source National Institutes of Health Clinical Center (CC)
Contact Elisa A Ferrante Brenlla, Ph.D.
Phone (301) 402-3577
Email elisa.ferrante@nih.gov
Is FDA regulated No
Health authority
Study type Observational

Clinical 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. 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


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 information / eligibility

Status Recruiting
Enrollment 1000
Est. completion date May 15, 2037
Est. primary completion date November 30, 2027
Accepts healthy volunteers Accepts Healthy Volunteers
Gender All
Age group 2 Years to 100 Years
Eligibility - INCLUSION CRITERIA: - 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. EXCLUSION CRITERIA: - 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.

Study Design


Related Conditions & MeSH terms


Locations

Country Name City State
United States National Institutes of Health Clinical Center Bethesda Maryland

Sponsors (1)

Lead Sponsor Collaborator
National Heart, Lung, and Blood Institute (NHLBI)

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Primary 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 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. ongoing
See also
  Status Clinical Trial Phase
Completed NCT04746794 - Early Detection of GEnetic Risk (EDGE) N/A
Completed NCT03792685 - Looking for Personalized Nutrition for Obesity/Type 2 Diabetes Mellitus Prevention N/A
Recruiting NCT04970056 - Pancreatic Cancer Early Detection Consortium
Not yet recruiting NCT06441942 - Prospective Multicenter Registry of Gender, Diversity and Inclusion (GEDI) of Women With Acute Coronary Syndrome
Terminated NCT04119596 - Study of the Genome, Gut Metagenome and Diet of Patients With Incident Parkinson's Disease
Recruiting NCT04141462 - EXOME Analysis Position in the Strategy of Genetic Predisposition Factors Identification in Early-onset Cancer N/A
Completed NCT02826330 - Abnormal Fecal Microbiota in Healthy Subjects at High Risk for Crohn's Disease
Recruiting NCT05929976 - InterNatIonal CHildhood Leukemia Microbiome/MEtabolome Cohort
Not yet recruiting NCT04620278 - Genetic Investigation of Cancer Predisposition
Active, not recruiting NCT02373709 - Sequence Variations of Genes in the Estrogen Pathway and Perinatal Depression
Not yet recruiting NCT06089421 - Genetic Information Assistant in Telegenetics N/A
Completed NCT05975489 - Genetics in the Effect of Caffeine on Fat Oxidation N/A
Completed NCT03954652 - Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - "GENOME FIRST APPROACH" N/A
Completed NCT04113239 - Study of the Genome, Gut Metagenome and Lifestyle of Patients With Incident Type 2 Diabetes Mellitus
Enrolling by invitation NCT04373525 - Prospective Evaluation on Cognitive Function and Its Associated Genetic Vulnerability in Cannabis Users
Completed NCT03362099 - Efficacy of the Use of Genetic Markers in the Choice of the Pharmacological Treatment of Smoking (GENTSMOKING) Phase 4
Recruiting NCT05857670 - Psyco Quality of Life and Procreation BRCA1/2
Active, not recruiting NCT04774445 - Effectiveness of MyCancerGene to Optimize Genetic Testing Outcomes N/A
Recruiting NCT05759143 - Enhancing Information Management for Young Adults After Genetic Cancer Risk Testing N/A
Active, not recruiting NCT04920513 - Universal- Versus Guidelines-Directed Genetic Testing for Germline Pathogenic Variants Utilizing a Multi-Gene Panel for Inherited Cancers in Non-Western Society.