Bethesda, Maryland 20892


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. ...

Study summary:

The diversity of human research programs at the NIH provides a unique opportunity to study different patient populations with monogenetic and undiagnosed diseases. Patient populations with mutations in almost every major signaling pathway relevant to our research are actively investigated at the NIH Clinical Center. The purpose of this protocol is to establish a repository of biospecimens from affected and unaffected cohorts (as reference biospecimens) to identify underlying disease mechanism(s). The collections will consist of biospecimens obtained from participants consented under this protocol and will also provide for the continued storage and analysis of biospecimens previously obtained from NIH IRB- approved protocols or from NIH protocols nearing completion. The biospecimens collected under this protocol will include blood (plasma, serum, peripheral blood mononuclear cells (PBMCs), saliva, buccal mucosa, urine, and skin biopsies. Additional biospecimens collected under other protocols may also be transferred to this protocol, including, tissue and fluid aspirates (cerebrospinal fluid, ascites, etc.), bone marrow, urine, saliva, skin biopsies, surgical tissue waste, malignant and non-malignant tissue samples, and/or other direct derivatives from human tissues (DNA, RNA, and induced pluripotent stems cells). Post-delivery umbilical cord core blood and cord tissue waste will be collected at the time of delivery under this protocol and/or shared if obtained under other protocols. Biospecimens may also be obtained as shared samples of clinically indicated procedures done inside or outside NIH, provided the subject consents to this protocol. The primary objective of this protocol is to create a robust resource to support basic and translational research by providing a mechanism for collecting, tracking, storing, dispensing, analyzing, and disposing of laboratory research samples from affected and unaffected cohorts. This biorepository will advance high-quality research in the areas of genetics and personalized medicine As this is not a treatment protocol, there is no primary endpoint. Research studies will include, but not be limited to, genomic studies, primary cell isolation and cell culture studies for molecular and biochemical analysis, immunohistological analysis, generation of patient-specific in vitro disease models (IPSCs), etc. As science is a continuously evolving field, technological advances in research methods will be incorporated into research studies accordingly.


- INCLUSION CRITERIA (MUST MEET ONE OF THE FOLLOWING): - Affected or unaffected cohorts (including genetic carriers or non-carriers as reference biospecimens). Note: Pregnant women are eligible to participate in this study; in these cases, only post-delivery cord blood and umbilical cord tissue waste will be collected off-site. - Willing to provide informed consent - No age limits. EXCLUSION CRITERIA: -Cognitively impaired individuals who are not affected or not related to affected subjects. Subjects unable to comprehend the research intent of this protocol.



Primary Contact:

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

Rebecca D Huffstutler, C.R.N.P.
Phone: (301) 594-1281

Backup Contact:


Location Contact:

Bethesda, Maryland 20892
United States

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
Phone: 800-411-1222

Site Status: Recruiting

Data Source:

Date Processed: November 18, 2019

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