Human Biospecimen Procurement Protocol: Biorepository to Support Translational Research to Identify Disease Mechanism(s)
NCT02543996 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 10000
Last updated 2026-05-15
Summary
Background:
Studies show that rare genetic variants might lead to diseases. Researchers want to collect blood and tissue samples so they can study them and better understand diseases.
Objective:
To collect blood and tissue samples for studies to identify underlying causes of disease.
Eligibility:
People of all ages
Design:
Participants will have blood and/or tissue samples collected.
Samples can be collected at the NIH Clinical Center. Participants doctors can collect the samples and send them to NIH. NIH staff can collect samples off site.
For blood samples, blood is taken from an arm vein using a needle.
Tissue collection may involve:
Buccal smear: Cells are collected by scraping the inside of the cheek with a cotton swab.
Saliva collection: Participants spit into a cup.
Skin biopsy: A special needle takes a very small skin sample.
Surgical waste tissue: If participants have surgery, NIH may receive samples of tissue that
would routinely be removed.
Umbilical cord or cord blood collection: If a participant has a baby, NIH may receive a
small piece of the umbilical cord or blood from the cord once the baby is delivered.
Conditions
- Undiagnosed Diseases
- Cardiovascular Disease
Sponsors & Collaborators
-
National Heart, Lung, and Blood Institute (NHLBI)
lead NIH
Principal Investigators
-
Manfred Boehm, M.D. · National Heart, Lung, and Blood Institute (NHLBI)
Eligibility
- Min Age
- 1 Month
- Max Age
- 100 Years
- Sex
- ALL
- Healthy Volunteers
- Yes
Timeline & Regulatory
- Start
- 2015-09-17
- Primary Completion
- 2040-06-04
- Completion
- 2050-05-22
Countries
- United States
Study Locations
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