NCT02543996

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
10,000

participants targeted

Target at P75+ for all trials

Timeline
292mo left

Started Sep 2015

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress31%
Sep 2015May 2050

First Submitted

Initial submission to the registry

September 5, 2015

Completed
4 days until next milestone

First Posted

Study publicly available on registry

September 9, 2015

Completed
8 days until next milestone

Study Start

First participant enrolled

September 17, 2015

Completed
24.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 4, 2040

Expected
10 years until next milestone

Study Completion

Last participant's last visit for all outcomes

May 22, 2050

Last Updated

April 24, 2026

Status Verified

February 10, 2026

Enrollment Period

24.7 years

First QC Date

September 5, 2015

Last Update Submit

April 23, 2026

Conditions

Undiagnosed DiseasesCardiovascular Disease

Keywords

Sample CollectionLaboratory Research SpecimensBiospecimen ProcurementRare DiseasesNatural History

Outcome Measures

Primary Outcomes (1)

  • 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)

    The primary objective is to procure human biospecimens from affected and unaffected cohorts for on-going and future basic translational research studies to identify underlying disease mechanism(s) and potential therapeutic approaches

    ongoing

Study Arms (1)

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

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

Eligibility Criteria

Age1 Month - 100 Years
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

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

You may qualify if:

  • 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.

You may not qualify if:

  • Healthy volunteers unable to give informed consent
  • Cognitively impaired individuals who are not affected
  • Cognitively impaired individuals who are not related to affected subjects.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Links

MeSH Terms

Conditions

Undiagnosed DiseasesCardiovascular DiseasesRare Diseases

Condition Hierarchy (Ancestors)

Disease AttributesPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Officials

  • Manfred Boehm, M.D.

    National Heart, Lung, and Blood Institute (NHLBI)

    PRINCIPAL INVESTIGATOR

Central Study Contacts

William R Whalen, C.R.N.P.

CONTACT

(301) 402-9841william.whalen@nih.gov

Manfred Boehm, M.D.

CONTACT

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

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
CROSS SECTIONAL
Sponsor Type
NIH
Responsible Party
SPONSOR

Study Record Dates

First Submitted

September 5, 2015

First Posted

September 9, 2015

Study Start

September 17, 2015

Primary Completion (Estimated)

June 4, 2040

Study Completion (Estimated)

May 22, 2050

Last Updated

April 24, 2026

Record last verified: 2026-02-10

Locations

US(1)