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Status:

RECRUITING

Clinical and Genetic Studies of Li-Fraumeni Syndrome

Lead Sponsor:

National Cancer Institute (NCI)

Conditions:

Li-Fraumeni Syndrome

Neoplasms

Eligibility:

All Genders

Brief Summary

Background: \- Li-Fraumeni syndrome (LFS) is a genetic condition that increases the risk for some types of cancer. LFS may lead to cancer of the bone or connective tissue, breast, and brain. It may a...

Detailed Description

Study Description: This is a natural history study involving questionnaires, clinical and research evaluations, clinical and research laboratory tests, review of medical records, and cancer surveill...

Eligibility Criteria

Inclusion

  • INCLUSION CRITERIA:
  • On referral, persons of all ages will be considered for inclusion in the study
  • because of either:
  • A family or personal medical history of neoplasia consistent with the diagnosis of LFS or LFL; or,
  • A personal history of a germline TP53 mutation; or,
  • A first- or second- degree relative of a TP53 mutation carrier, regardless of mutation status; or,
  • A personal history of three or more LFS-related primary cancers; or,
  • A personal history of adrenal cortical carcinoma or choroid plexus carcinoma at any age, regardless of family history
  • Personal and family medical history must be verified through questionnaires, interviews, review
  • of medical records and/or review of pathology slides.
  • There are 72 families who have previously enrolled in the pilot study under protocol 78-C-0039.
  • As the eligibility criteria remain the same, these families will be eligible for this protocol and will be invited to sign the new consent.
  • Ability of subject or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent document.
  • For both the Field and Clinical Center Cohort, the PI will ensure that study investigators will
  • identify an appropriate LAR consistent with requirements of Policy 403 and will obtain consent
  • from the LAR as outlined in the consent process before initiating research interventions.
  • Pregnant women
  • In order to study the lifetime rates of cancer development in all individuals with Li-Fraumeni
  • syndrome, we will need to evaluate what effect pregnancy may have on rate of cancer
  • development both in affected individuals and unaffected family controls. Additionally, some
  • cancers are known to have an increased risk of development in the context of pregnancy and
  • lactation. Exclusion of pregnant women would preclude understanding of these cancer risks for
  • an important subset of the population.
  • Pregnant women are eligible for enrollment on the data collection component of this study.
  • Pregnant women will be included in this study as several endpoints may be assessed during
  • pregnancy; counseling, education, and other minimal risk procedures (i.e. blood draw) may be
  • done. We will postpone full clinical evaluations at the Clinical Center of pregnant women until
  • the subject has recovered post-partum.
  • All screening studies, for women who are pregnant, or breastfeeding will be deferred while the
  • woman is pregnant or breastfeeding. Pregnancy testing will be performed for females of childbearing age prior to imaging studies, and the test results must be negative prior to the scan..
  • The risk to the fetus and pregnant woman would be no greater than minimal for procedures that
  • are performed.
  • EXCLUSION CRITERIA:
  • Referred individuals and families whose reported diagnoses cannot be verified
  • Medical or psychiatric disorder which, in the opinion of the Principal Investigator, would preclude the ability to participate in clinical research
  • Women who are pregnant will not be eligible for the cancer screening protocol until they recover post-partum. Women participating in the cancer screening protocol will discontinue this component if they become pregnant while on study. Once they recover post-partum, they can continue the cancer screening protocol.

Exclusion

    Key Trial Info

    Start Date :

    January 17 2012

    Trial Type :

    OBSERVATIONAL

    Allocation :

    ESTIMATED

    End Date :

    Estimated Enrollment :

    5000 Patients enrolled

    Trial Details

    Trial ID

    NCT01443468

    Start Date

    January 17 2012

    Last Update

    January 5 2026

    Active Locations (2)

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    Page 1 of 1 (2 locations)

    1

    National Cancer Institute - Shady Grove

    Bethesda, Maryland, United States, 20892

    2

    National Institutes of Health Clinical Center

    Bethesda, Maryland, United States, 20892