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Biomarker Monitoring in TP53 Mutation Carriers

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02289326
Recruitment Status : Completed
First Posted : November 13, 2014
Last Update Posted : September 19, 2019
J. Craig Venter Institute
Information provided by (Responsible Party):
Laura Goetz, Scripps Health

Brief Summary:


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

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Study Type : Observational
Actual Enrollment : 6 participants
Observational Model: Case-Only
Time Perspective: Prospective
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

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. 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

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Individuals with functionally significant germline TP53 gene mutations who are susceptible to Li-Fraumeni Syndrome.

Inclusion Criteria:

  1. Any individual and their family with a known functionally significant germline TP53 mutation susceptible to Li-Fraumeni Syndrome.
  2. Any individual and their family with a known hereditary cancer syndrome.

Exclusion Criteria:

  1. No functionally significant germline TP53 gene mutation.
  2. Inability to tolerate intensive biomonitoring.

Information from the National Library of Medicine

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 identifier (NCT number): NCT02289326

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United States, California
Scripps Clinic Medical Group
La Jolla, California, United States, 92037
Sponsors and Collaborators
Scripps Health
J. Craig Venter Institute
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Principal Investigator: Nicholas J Schork, PhD J. Craig Venter Institute
Study Director: Victoria Magnuson, PhD J. Craig Venter Institute

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Responsible Party: Laura Goetz, Staff Surgeon, Scripps Health Identifier: NCT02289326    
Other Study ID Numbers: Scripps IRB 14-6419
First Posted: November 13, 2014    Key Record Dates
Last Update Posted: September 19, 2019
Last Verified: September 2019
Additional relevant MeSH terms:
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Li-Fraumeni Syndrome
Neoplastic Syndromes, Hereditary
Pathologic Processes
Genetic Diseases, Inborn
DNA Repair-Deficiency Disorders
Metabolic Diseases