Recruiting

Observational Study

Sponsor:

National Heart, Lung, and Blood Institute (NHLBI)

Code:

NCT02543996

Conditions

Undiagnosed Diseases

Cardiovascular Disease

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

Study Details

Brief 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

Study ID

NCT02543996

Start date

Sep 17, 2015

Status verified date

Jun 17, 2026

Completion date

May 22, 2050

Anticipated

Primary completion date

Jun 4, 2040

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

  • 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.

Study Design

Enrollment

10000 participants

Anticipated

Interventions and Outcome Measures

Arms

Affected or unaffected cohorts (including genetic carriers or non-carriers as

Affected or unaffected cohorts (including genetic carriers or non-carriers as reference biospecimens)

Primary outcome measure

  • To procure human biospecimens from affected and unaffected cohorts for on-going and future basic and translational research studies to identify underlying disease mechanism(s) [ Time Frame: ongoing ]

Central Contacts and Locations

Central contacts

Manfred Boehm, M.D.

(301) 435-7211boehmm@nhlbi.nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

800-411-1222ccopr@nih.gov

More Information

Sponsor

National Heart, Lung, and Blood Institute (NHLBI)

Last update posted

Sep 9, 2026

Last verified

Jun 17, 2026

Keywords

  • Sample Collection
  • Laboratory Research Specimens
  • Biospecimen Procurement
  • Rare Diseases
  • Natural History

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Heart, Lung, and Blood Institute (NHLBI) on 2026-09-09.