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Biomarker Monitoring in TP53 Mutation Carriers

NCT02289326 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 6

Last updated 2019-09-19

No results posted yet for this study

Summary

Purpose

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.

Conditions

  • Li-Fraumeni Syndrome
  • Hereditary Cancer Syndromes
  • TP53 Gene Germline Mutation Carrier

Sponsors & Collaborators

  • J. Craig Venter Institute

    collaborator OTHER

  • Scripps Health

    lead OTHER

Principal Investigators

  • Nicholas J Schork, PhD · J. Craig Venter Institute

  • Victoria Magnuson, PhD · J. Craig Venter Institute

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2014-07-31
Primary Completion
2016-07-31
Completion
2016-07-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02289326 on ClinicalTrials.gov