Human Biospecimen Procurement Protocol: Biorepository to Support Translational Research to Identify Disease Mechanism(s)
| Status: | Recruiting |
|---|---|
| Conditions: | Peripheral Vascular Disease |
| Therapuetic Areas: | Cardiology / Vascular Diseases |
| Healthy: | No |
| Age Range: | Any - 100 |
| Updated: | 1/16/2019 |
| Start Date: | September 5, 2015 |
| End Date: | May 22, 2050 |
| Contact: | Rebecca D Huffstutler, C.R.N.P. |
| Email: | rebecca.huffstutler@nih.gov |
| Phone: | (301) 594-1281 |
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.
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.
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.
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.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
Phone: 800-411-1222
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