Research on genetic diseases affecting heart and blood vessels

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 observational study aims to investigate the etiology and natural history of rare and orphan diseases with vascular phenotypes. It involves collecting data and biological specimens from individuals aged 2 and older who may have genetic conditions affecting their cardiovascular system, as well as their family members and healthy volunteers. Participants will undergo a series of assessments, including medical history reviews, physical exams, imaging tests, and sample collections. The findings may lead to the identification of novel disease mechanisms and potential future therapeutic studies.

Why it matters

Who can join: the full rules

* 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.
* Unaffected unrelated pregnant women.

Where it's running

• National Institutes of Health Clinical Center
  Bethesda, Maryland, United States Recruiting

Study contacts

• Principal investigator: Manfred Boehm, M.D. — National Heart, Lung, and Blood Institute (NHLBI)
• Study coordinator: Ruth C Brower, R.N.
• Email: ruth.brower@nih.gov
• Phone: (301) 443-6036

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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.