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Human Biospecimen Procurement Protocol: Biorepository to Support Translational Research to Identify Disease Mechanism(s)
Human Biospecimen Procurement and Analysis to Support Translational Research to Identify Genetic Etiology and Disease Mechanism(s) in Rare Genetic Vascular/Cardiovascular Diseases
Who can join
1 Month – 100 Years · All sexes · Healthy volunteers welcome
Full eligibility 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.
About the study
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.
Sponsor: National Heart, Lung, and Blood Institute (NHLBI) · Participants: 10,000 · Started: Sep 17, 2015
Contact the study team
- Ruth C Brower, R.N. · Phone: (301) 443-6036
- Manfred Boehm, M.D. · Phone: (301) 435-7211
Official record on ClinicalTrials.gov — NCT02543996
Locations in the U.S.
| Maryland | National Institutes of Health Clinical Center, Bethesda |
Conditions
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.