Biomarker Monitoring in TP53 Mutation Carriers
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|ClinicalTrials.gov Identifier: NCT02289326|
Recruitment Status : Completed
First Posted : November 13, 2014
Last Update Posted : September 19, 2019
This study is an 'N-of-one' observational study focusing on individuals with a hereditary predisposition to cancer due to a genetic mutation in the TP53 gene. An individual with this mutation has a >90% chance of developing many different forms of cancer in their lifetime. Since germline TP53 gene mutation carriers are highly susceptible to cancer, cancer prevention strategies and early cancer detection strategies are crucial. Unfortunately, the current standard of care for monitoring germline TP53 gene mutation carriers for early signs of cancer is yearly MRI scans and intermittent blood draws. Villani et al. showed that standard monitoring is inadequate and introduced a more sophisticated protocol for early cancer detection. We extended the Villani et al. protocol to include a number of markers for early detection and are currently vetting their utility, in terms of their inherent variability, patient tolerability of frequent interrogation, and ability to show changes that might indicate a need for further examination.
In addition to the markers being collected, important covariate information, such as diet, sleep, and activities are being collected (via, e.g., wearable wireless devices) in order to take them into account in assessing the levels of the markers at a single data collection time or over time. One important aspect of the protocol is to identify changes, rather than specific levels, in marker status over time for an individual that might be indicative of tumor formation, essentially exploiting the concept of 'personalized thresholds' discussed by Drescher et al.
If any indication of the presence of a cancer, tumorigenic process, or general sign of ill-health is observed, the protocol calls for a discussion of the findings among the research team, followed by a discussion between the clinical lead on the research team and the primary care provider and/or specialists overseeing a participating patient's care, possible validation of the assay(s) motivating the discussions, and a decision on how to intervene on the part of the primary care provider and/or specialists.
|Condition or disease|
|Li-Fraumeni Syndrome Hereditary Cancer Syndromes TP53 Gene Germline Mutation Carrier|
|Study Type :||Observational|
|Actual Enrollment :||6 participants|
|Official Title:||Biomarker Monitoring for a Young Individual Carrying a TP53 Gene Mutation in a Familial High-Cancer Predisposition Setting|
|Study Start Date :||July 2014|
|Actual Primary Completion Date :||July 2016|
|Actual Study Completion Date :||July 2016|
- Development of cancer [ Time Frame: 12 months ]
Biospecimen Retention: Samples With DNA
- DNA and RNA from blood
- Stool samples for microbiome analysis
- Urine samples for microbiome and general biomarker analysis
- Saliva samples for microbiome and general biomarker analysis
- Blood for general biomarker and metabolite profiling
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02289326
|United States, California|
|Scripps Clinic Medical Group|
|La Jolla, California, United States, 92037|
|Principal Investigator:||Nicholas J Schork, PhD||J. Craig Venter Institute|
|Study Director:||Victoria Magnuson, PhD||J. Craig Venter Institute|