Characterizing patients with rare cardiovascular diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study focuses on individuals with known or suspected metabolic or genetic diseases that increase their risk for cardiovascular conditions. It aims to evaluate both affected individuals and their unaffected relatives, as well as healthy volunteers, through various tests including blood samples and heart function assessments. The goal is to understand the etiology and natural history of uncommon cardiovascular diseases and identify novel disease mechanisms. This research will contribute to the broader knowledge of cardiovascular health and may lead to innovative therapeutic approaches.

Why it matters

Who can join: the full rules

* INCLUSION CRITERIA:

Eligible subjects may include anyone over 1 year of age who is affected with diseases/disorders (index cases), or who is a relative of a person who is affected with diseases/disorders. Relatives may include genetic carriers and non-carriers.

* Healthy adult volunteers must be 18 years of age or older, and must agree to have blood or tissue samples studied, and potentially stored for future research.
* Index cases enrolled in this protocol will have been referred with a known or suspected pathology that may be associated with cardiovascular dysfunction or risk with a suspected atypical presentation, heritable disorder, or genetic predisposition. The investigator with expertise in the presentation of the subject, along with consulting specialists, will review the medical history and may review any medical records that are available of prospective subjects and offer admission based upon the potential to help the individual, to learn from the subject, or to initiate clinical or basic research suggested by the subject s workup.

EXCLUSION CRITERIA:

* Persons of less than 1 year of age or greater than 100 years of age
* Healthy volunteers unable to give informed consent or who decline to have blood and/or tissue studies, or who do not consent to have samples stored for future research may be excluded from this study.
* Pregnant women
* Persons who are not fluent in the English language will be excluded from Patient Reported Outcome Questionnaires. Such persons would be unable to properly complete questionnaires that are only valid in the English language.

Where it's running

• Hope Center
  Washington D.C., District of Columbia, United States Recruiting
• National Institutes of Health Clinical Center
  Bethesda, Maryland, United States Recruiting
• Suburban Hospital
  Bethesda, Maryland, United States Completed

Study contacts

• Principal investigator: Paul M Hwang, M.D. — National Heart, Lung, and Blood Institute (NHLBI)
• Study coordinator: Rebecca D Huffstutler, C.R.N.P.
• Email: rebecca.huffstutler@nih.gov
• Phone: (301) 594-1281

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.