This study is currently recruiting participants.
Number
15-H-0190
Sponsoring Institute
National Heart, Lung and Blood Institute (NHLBI)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 1 Mo Max Age: 100 Years
Referral Letter Required
No
Population Exclusion(s)
None
Keywords
Sample Collection; Laboratory Research Specimens; Biospecimen Procurement; Rare Diseases; Natural History
Recruitment Keyword(s)
Condition(s)
Undiagnosed Diseases; Cardiovascular Disease
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Heart, Lung, and Blood Institute
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.
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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.
-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.
Principal Investigator
Referral Contact
For more information: