Utility of Plasma Circulating Tumor DNA (ctDNA) in Asymptomatic Subjects for the Detection of Neoplastic Disease
NCT ID: NCT02612350
Last Updated: 2018-04-06
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
1106 participants
OBSERVATIONAL
2015-11-30
2017-08-31
Brief Summary
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Detailed Description
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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.
Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Increased Risk for Cancer Development
The group is to include at least 1000 individuals who are at high risk for the development of cancer. Risk is assessed through the completion of a clinical history questionnaire. Examples of such subjects include those with known hereditary cancer syndrome pathogenic variants without a diagnosis of cancer, with significant family history of breast, ovarian, colon, or lung cancer or melanoma, or another strong history of cancer but no prior molecular diagnosis, heavy smokers or those exposed to carcinogens and mutagens. The individuals who meet criteria for inclusion will undergo cell-free DNA isolation and circulating-tumor DNA (ctDNA) analysis for the detection of genetic mutations associated with the possible development of a malignancy.
ctDNA Analysis for the Detection of Genetic Mutations
Cell-free DNA (cfDNA) is isolated from a blood plasma sample and tested for the presence of 96 specific well-described mutations in 9 cancer driver genes. The presence of more than 2 copies of a mutation may indicate the presence of a malignancy. Follow up with the subject's physician would be needed for an examination and any additional testing that the physician wants to perform to further assess for the development of cancer.
Interventions
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ctDNA Analysis for the Detection of Genetic Mutations
Cell-free DNA (cfDNA) is isolated from a blood plasma sample and tested for the presence of 96 specific well-described mutations in 9 cancer driver genes. The presence of more than 2 copies of a mutation may indicate the presence of a malignancy. Follow up with the subject's physician would be needed for an examination and any additional testing that the physician wants to perform to further assess for the development of cancer.
Eligibility Criteria
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Inclusion Criteria
* 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
* no risk factors that place the individual at high risk
* age under 18 years
* individuals unwilling to sign the IRB-approved consent form
18 Years
ALL
Yes
Sponsors
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Pathway Genomics
INDUSTRY
Responsible Party
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Principal Investigators
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Glenn Braunstein, MD
Role: PRINCIPAL_INVESTIGATOR
Pathway Genomics
Anja Kammesheidt, PhD
Role: STUDY_DIRECTOR
Pathway Genomics
Locations
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Pathway Genomics
San Diego, California, United States
Countries
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References
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Other Identifiers
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Pathway Gennomics 004
Identifier Type: -
Identifier Source: org_study_id
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