Utility of Plasma Circulating Tumor DNA (ctDNA) in Asymptomatic Subjects for the Detection of Neoplastic Disease
| Status: | Completed |
|---|---|
| Conditions: | Cancer |
| Therapuetic Areas: | Oncology |
| Healthy: | No |
| Age Range: | 18 - Any |
| Updated: | 4/17/2018 |
| Start Date: | November 2015 |
| End Date: | August 2017 |
Pathway Genomics Corporation (Pathway Genomics), a San Diego, California company, is involved
in the development and validation of new molecular diagnostic assays for the analysis of
circulating tumor deoxyribonucleic acid (DNA) (ctDNA) found in the plasma-derived DNA
(cell-free DNA or cfDNA) in order to identify specific variants (mutations) in cancer driver
genes. The purpose of testing for mutations in ctDNA is to detect and monitor cancer. All
cells shed DNA into the bloodstream. Finding cancer-associated mutations in the cfDNA may
lead to early detection of cancer in an otherwise apparently healthy (i.e. asymptomatic)
individual or may allow the healthcare provider to more effectively monitor and treat a known
cancer patient. The analysis is performed using a polymerase chain reaction (PCR)-based
methodology where oligonucleotides are designed to target specific mutations in designated
genes of interest followed by next generation deep sequencing of the amplified targets.
Evaluation of the performance of these assays for screening for cancer in asymptomatic
subjects is essential for the clinical validation of the use of these assays. The specific
aim of this protocol is to obtain relevant human blood samples from individual subjects at
higher than average risk for the development of cancer due to age, heredity, or environmental
or toxic exposures for use in the statistical analysis of this method as an adjunct screening
test for the potential presence of cancer.
in the development and validation of new molecular diagnostic assays for the analysis of
circulating tumor deoxyribonucleic acid (DNA) (ctDNA) found in the plasma-derived DNA
(cell-free DNA or cfDNA) in order to identify specific variants (mutations) in cancer driver
genes. The purpose of testing for mutations in ctDNA is to detect and monitor cancer. All
cells shed DNA into the bloodstream. Finding cancer-associated mutations in the cfDNA may
lead to early detection of cancer in an otherwise apparently healthy (i.e. asymptomatic)
individual or may allow the healthcare provider to more effectively monitor and treat a known
cancer patient. The analysis is performed using a polymerase chain reaction (PCR)-based
methodology where oligonucleotides are designed to target specific mutations in designated
genes of interest followed by next generation deep sequencing of the amplified targets.
Evaluation of the performance of these assays for screening for cancer in asymptomatic
subjects is essential for the clinical validation of the use of these assays. The specific
aim of this protocol is to obtain relevant human blood samples from individual subjects at
higher than average risk for the development of cancer due to age, heredity, or environmental
or toxic exposures for use in the statistical analysis of this method as an adjunct screening
test for the potential presence of cancer.
The objectives of this study are to obtain human blood samples from asymptomatic subjects who
have never been diagnosed with cancer, but who may be at increased risk for cancer due to
heredity, exposures, age, or family history to assess the validity of screening healthy but
at risk patients for cancer via analysis of ctDNA.
Specifically, the blood specimens will be collected from individuals who have responded to a
self-administered health questionnaire that screens for higher risk of contracting cancer.
Each participant will be asked to provide a 30 ml blood sample to be drawn by a primary care
provider (PCP) or licensed phlebotomist. The specimens collected during the study may also be
used in the research and development of new or modified molecular genetics assays. The
results of these studies will be used to further the understanding of the use of ctDNA for
the detection and monitoring of cancer in humans.
The blood samples are collected in blood collection tubes (BCT) called Cell-Free DNA BCT®
manufactured by Streck and intended for collection, stabilization and transportation of
cell-free plasma DNA. This device also stabilizes and preserves cellular genomic DNA present
in nucleated blood cells and circulating epithelial cells (tumor cells) found in whole blood.
This product has not been cleared by the U.S. Food and Drug Administration for In Vitro
Diagnostic use and is labeled by Streck for research use only. Under the Clinical Laboratory
Improvement Amendments (CLIA) regulations, laboratories are authorized to validate and use,
as part of a laboratory-developed test (LDT), devices that have not been cleared or approved
by the FDA. Pathway Genomics validated the CancerInterceptTM Detect molecular analysis system
with the Streck tubes, in accordance with CLIA.
Once the specimen has been collected and sent to Pathway by the physician or the phlebotomist
who collects the samples, all other processing and testing are conducted by Pathway
laboratory personnel. The analysis begins with the separation of the plasma from the rest of
the blood sample. cfDNA will then be isolated from each sample. The quantity of cfDNA is
measured and then the sample is amplified via PCR for next generation sequencing. The results
of the sequencing will then be analyzed for the presence of one or more of the 96 mutations
analyzed in this assay. The data are then reviewed and a report will be generated.
have never been diagnosed with cancer, but who may be at increased risk for cancer due to
heredity, exposures, age, or family history to assess the validity of screening healthy but
at risk patients for cancer via analysis of ctDNA.
Specifically, the blood specimens will be collected from individuals who have responded to a
self-administered health questionnaire that screens for higher risk of contracting cancer.
Each participant will be asked to provide a 30 ml blood sample to be drawn by a primary care
provider (PCP) or licensed phlebotomist. The specimens collected during the study may also be
used in the research and development of new or modified molecular genetics assays. The
results of these studies will be used to further the understanding of the use of ctDNA for
the detection and monitoring of cancer in humans.
The blood samples are collected in blood collection tubes (BCT) called Cell-Free DNA BCT®
manufactured by Streck and intended for collection, stabilization and transportation of
cell-free plasma DNA. This device also stabilizes and preserves cellular genomic DNA present
in nucleated blood cells and circulating epithelial cells (tumor cells) found in whole blood.
This product has not been cleared by the U.S. Food and Drug Administration for In Vitro
Diagnostic use and is labeled by Streck for research use only. Under the Clinical Laboratory
Improvement Amendments (CLIA) regulations, laboratories are authorized to validate and use,
as part of a laboratory-developed test (LDT), devices that have not been cleared or approved
by the FDA. Pathway Genomics validated the CancerInterceptTM Detect molecular analysis system
with the Streck tubes, in accordance with CLIA.
Once the specimen has been collected and sent to Pathway by the physician or the phlebotomist
who collects the samples, all other processing and testing are conducted by Pathway
laboratory personnel. The analysis begins with the separation of the plasma from the rest of
the blood sample. cfDNA will then be isolated from each sample. The quantity of cfDNA is
measured and then the sample is amplified via PCR for next generation sequencing. The results
of the sequencing will then be analyzed for the presence of one or more of the 96 mutations
analyzed in this assay. The data are then reviewed and a report will be generated.
Inclusion Criteria:
- strong family history of cancer
- known carrier of a pathogenic variant in a gene indicating an increased risk of
cancer, for example, in the BRCA1 or TP53 genes.
- exposure to environmental toxins, carcinogens, or mutagens, including but not limited
to tobacco, radiation, asbestos, long-time industrial chemical exposure
- age equal to or over 50 years
Exclusion Criteria:
- prior diagnosis of cancer except basal cell carcinoma
- no risk factors that place the individual at high risk
- age under 18 years
- individuals unwilling to sign the IRB-approved consent form
We found this trial at
1
site
San Diego, California 92121
Principal Investigator: Glenn Braunstein, MD
Phone: 866-960-9131
Click here to add this to my saved trials
