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

Description

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 Overview

Study Details

Study overview

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. ...

Human Biospecimen Procurement and Analysis to Support Translational Research to Identify Genetic Etiology and Disease Mechanism(s) in Rare Genetic Vascular/Cardiovascular Diseases

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

Condition
Undiagnosed Diseases
Intervention / Treatment

-

Contacts and Locations

Bethesda

National Institutes of Health Clinical Center, Bethesda, Maryland, United States, 20892

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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.

Ages Eligible for Study

1 Month to 100 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

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

Manfred Boehm, M.D., PRINCIPAL_INVESTIGATOR, National Heart, Lung, and Blood Institute (NHLBI)

Study Record Dates

2050-05-22