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Human Biospecimen Procurement Protocol: Biorepository to Support Translational Research to Identify Disease Mechanism(s)

National Heart, Lung, and Blood Institute (NHLBI) · NCT02543996

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Ages 1 mo–100 · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
10000
US sites recruiting
1
Study start
September 17, 2015
Record last updated
October 23, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

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

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full 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.

Recruiting US locations

  • National Institutes of Health Clinical Center

    Bethesda, MD 20892

    Site contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) · 800-411-1222 · ccopr@nih.gov

Study contacts (from the official record)

  • Ruth C Brower, R.N. · (301) 443-6036 · ruth.brower@nih.gov
  • Manfred Boehm, M.D. · (301) 435-7211 · boehmm@nhlbi.nih.gov
Human Biospecimen Procurement Protocol: Biorepository to Support… (NCT02543996) | Bored Studies