Characterizing patients with rare cardiovascular diseases
Cardiovascular Disease Discovery Protocol
National Institutes of Health Clinical Center (CC) · NCT01143454
This study is trying to learn more about rare heart diseases by testing people who have these conditions, their family members, and healthy volunteers to see how these diseases develop and what causes them.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 5000 (estimated) |
| Ages | 1 Year to 100 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) (nih) |
| Locations | 3 sites (Washington D.C., District of Columbia and 2 other locations) |
| Trial ID | NCT01143454 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 1 to 100 with cardiovascular diseases, their unaffected relatives, and healthy volunteers.
Not a fit: Patients without any cardiovascular risk factors or genetic predispositions may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding and treatment options for patients with rare cardiovascular diseases.
How similar studies have performed: Other studies have shown success in characterizing cardiovascular diseases, but this approach focuses on rare and uncommon presentations, making it somewhat novel.
Eligibility criteria
Show full inclusion / exclusion criteria
* 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 this trial is running
Washington D.C., District of Columbia and 2 other locations
- Hope Center — Washington D.C., District of Columbia, United States (RECRUITING)
- Suburban Hospital — Bethesda, Maryland, United States (COMPLETED)
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (RECRUITING)
Study contacts
- Principal investigator: Michael N Sack, 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
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.
Conditions: Metabolic Disease, Obesity, Li-Fraumeni Syndrome, Cardiomyopathy, Atherosclerosis, Inflammatory Disease, Cardiac Disease, iPS Cells