Research on genetic diseases affecting heart and blood vessels
Vascular Disease Discovery Protocol
This study is trying to learn more about rare genetic heart and blood vessel diseases by collecting information and samples from people who have these conditions, their families, and healthy volunteers.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1000 (estimated) |
| Ages | 2 Years to 100 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT03538639 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 2 to 100 with suspected genetic diseases affecting the heart and/or blood vessels, as well as their relatives.
Not a fit: Patients who are healthy volunteers unable to provide informed consent or who decline to participate in sample collection may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could enhance understanding of rare genetic diseases and improve diagnosis and treatment options for affected patients.
How similar studies have performed: Other studies focusing on the genetic basis of rare diseases have shown promise, suggesting that this approach may yield valuable insights.
Eligibility criteria
Show full inclusion / exclusion criteria
* 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 this trial is running
Bethesda, Maryland
- 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: William R Whalen, C.R.N.P.
- Email: william.whalen@nih.gov
- Phone: (301) 402-9841
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.