Collecting blood and tissue samples to understand rare diseases
Official title: Human Biospecimen Procurement and Analysis to Support Translational Research to Identify Genetic Etiology and Disease Mechanism(s) in Rare Genetic Vascular/Cardiovascular Diseases
Run by National Institutes of Health Clinical Center (CC) · NCT02543996 · Data updated 2026-11-12
This study is collecting blood and tissue samples from people with rare or undiagnosed diseases to see if they can find out what causes these conditions.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 1 Month to 100 Years |
| Sex | All |
| Enrollment | 10000 (estimated) |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Status | Recruiting |
| Started | September 17, 2015 |
| Main results expected | June 4, 2040 |
| Study ends | May 22, 2050 |
| Registry record updated | October 29, 2026 |
| Trial ID | NCT02543996 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals of all ages with undiagnosed diseases or cardiovascular conditions, as well as their affected or unaffected relatives.
✕Probably not a fit
Patients who are healthy volunteers unable to provide informed consent or cognitively impaired individuals not related to affected subjects may not benefit from this study.
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 collect blood and tissue samples from individuals with undiagnosed diseases and cardiovascular conditions to investigate the genetic causes and mechanisms of these diseases. Participants of all ages can provide samples, which may include blood, saliva, skin biopsies, and surgical waste tissue. The samples will be analyzed to identify genetic variants and their implications for disease. The study is conducted at the NIH Clinical Center, where samples can be collected on-site or sent from participants' doctors.
Why it matters
Potential benefit: If successful, this study could lead to a better understanding of rare genetic diseases and improved diagnostic and treatment options for affected patients.
How similar studies have gone: Other studies have successfully utilized similar biospecimen collection approaches to uncover genetic factors in rare diseases, indicating a promising avenue for this research.
Who can join: the full rules
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA (SUBJECTS MUST MEET ONE OF THE FOLLOWING): * Age: older than 1 month of age * 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. * Cognitively impaired individuals that are affected * Cognitively impaired individuals that are related to an affected subject. * Subjects willing to provide informed consent. EXCLUSION CRITERIA: * Healthy volunteers unable to give informed consent * Cognitively impaired individuals who are not affected * Cognitively impaired individuals who are not related to affected subjects.
Where it's running
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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
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.