Actively Recruiting

Age: 1Year - 100Years
All Genders
Healthy Volunteers
ID01143454

Cardiovascular Disease Discovery Protocol Characterization of Rare and Uncommon Cardiovascular Diseases and Related Genetic Conditions

Led by National Heart, Lung, and Blood Institute (NHLBI) · Updated on 2026-06-08

5000

Participants Needed

3

Research Sites

N/A

Total Duration

On this page

AI-Summary

What this Trial Is About

Researchers are studying individuals who have known or suspected metabolic, inflammatory, or genetic conditions that may increase their risk for heart and blood vessel diseases. This includes both affected individuals and unaffected relatives or healthy volunteers. The study aims to understand rare and uncommon diseases related to cardiovascular dysfunction, identify genetic factors, and discover new disease mechanisms to expand knowledge and support future research and treatment development. Participants may undergo various tests, depending on their condition. These tests include photography of the face and body, body measurements, X-rays, metabolic stress testing, echocardiography, MRI scans including cardiovascular imaging, CT angiograms, PET imaging, six-minute walk tests, and vascular ultrasounds. Blood, tissue, and other samples may be collected during the study or surgical procedures. The study includes children over 1 year old with diseases or relatives of affected individuals, healthy adult volunteers 18 and older, and adults with known or suspected cardiovascular-related pathologies. During the study, participants will provide samples and undergo evaluations tailored to their condition. Researchers will assess heart, blood vessel, and lung function through various imaging and functional tests. They will monitor disease diagnosis, potential genetic counseling, and understanding of disease processes. The study may include follow-up visits or additional protocols to further study specific diseases or pursue innovative treatments. Participation can last as long as needed to complete these evaluations and follow-ups.

CONDITIONS

Brief Title

Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System

Who Can Participate

Age: 1Year - 100Years
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • Participants must be over 1 year old and affected with relevant diseases or be relatives of affected individuals, including genetic carriers and non-carriers.
  • Healthy adult volunteers must be 18 years or older.
  • Healthy adult volunteers must agree to have blood or tissue samples studied and possibly stored for future research.
  • Index cases must have a known or suspected cardiovascular-related pathology with atypical presentation, heritable disorder, or genetic predisposition.
  • Admission is based on potential benefit to the individual, research learning, or initiation of clinical/basic research.
Not Eligible

You will not qualify if you...

  • Persons younger than 1 year or older than 100 years.
  • Healthy volunteers unable or unwilling to give informed consent or to have blood or tissue samples studied or stored.
  • Pregnant women.
  • Persons not fluent in English who cannot complete patient-reported outcome questionnaires in English.

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

1
2
3
+1

Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 screening and enrollment visit (in-person)

Diagnostic Evaluation

Duration - Variable depending on individual assessments

Participants undergo diagnostic evaluations including research MRI pulse sequences and other assessments to characterize rare and uncommon cardiovascular diseases and related genetic conditions.

1 or more visits depending on assessments

Long-term Monitoring

Duration - Ongoing for the duration of participation

Participants are observed over time to understand the natural history and progression of their cardiovascular conditions and to collect samples for ongoing research.

Visits scheduled as needed for follow-up and sample collection

Trial Site Locations

Total: 3 locations

1

Hope Center

Washington D.C., District of Columbia, United States, 20006

Actively Recruiting

2

Suburban Hospital

Bethesda, Maryland, United States, 20814

Completed

3

National Institutes of Health Clinical Center

Bethesda, Maryland, United States, 20892

Actively Recruiting

Loading map...

Research Team

R

Rebecca D Huffstutler, C.R.N.P.

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

3

Similar Trials

68Gallium-FAPI46 PET/CT Imaging in Chronic Inflammatory and ...

Inflammatory Disease

Actively Recruiting

1 location

Exploiting Leading Edge 7 Tesla MRI Brain Imaging to Deciphe...

Rheumatoid Arthritis

Actively Recruiting

1 location

A Bilingual Virtually-based Intervention (PEDALL) for the Pr...

Acute Lymphoblastic Leukemia

Actively Recruiting

1 location

Frequently Asked Questions

Have more questions? Get in touch with our team for quick support

Not the Right Trial for You?

Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.

Already have an account? Log in here

Published Research Related To This Trial

Boosting NAD preferentially blunts Th17 inflammation via arginine biosynthesis and redox control in healthy and psoriasis subjects.

Kim Han, Komudi Singh, Allison M Meadows...

https://pubmed.ncbi.nlm.nih.gov/37586364