Li-Fraumeni Syndrome/TP53 Biobank

Part of paid clinical trials in Philadelphia, Pennsylvania.

Sponsor
Abramson Cancer Center at Penn Medicine
Study ID
NCT04367246
Status
Recruiting
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Conditions

  • Li-Fraumeni Syndrome
  • Li-Fraumeni-Like Syndrome

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Accepted

Interventions

  • No Intervention — OTHER
    No intervention is assigned.

Study Details

Li-Fraumeni Syndrome (LFS) and Li-Fraumeni-like (LFL) Syndrome are cancer predisposition syndromes due to germline aberrations in the TP53 gene. Patients with classical LFS have a lifetime malignancy risk between 80-90%, with 21% of those cancers occurring by the age of 15 years. There are established guidelines for screening patients with LFS that have led to earlier detection and treatment of cancer in this population. There are a number of important issues facing patients identified to have germline TP53 variations. First, with the advent of massively parallel sequencing, increasing numbers of patients are now being identified with a wide range of clinical phenotypes associated with germline TP53 mutations, and the natural history of these patients is less well understood. Second, surveillance for malignancy in LFS and other TP53-associated syndromes involves frequent laboratory and radiologic studies that are imperfect measures of disease onset; therefore, more specific, less invasive biomarker-driven screening methods are needed. Finally, studies to date have not yet identified whether tumors which form in LFS or other germline TP53-associated tumors have unique aberrations or signatures that could be exploited in precision medicine treatment of these patients. In order to study these important issues in LFS, this protocol will establish a TP53 Clinical Database and Biobank. The Investigator plans to use this biobank to study genotype-phenotype correlations in patients with LFS and other germline TP53-associated syndromes, mechanisms of tumor formation, and novel methods of cancer screening in this high risk population.

Key Dates

Start date
Sep 24, 2019
Status verified
Aug 2025
Primary completion
Sep 24, 2029
Completion
Sep 24, 2029

Study Design

Enrollment
300 participants (estimated)

Arms

  • Arm: Affected Patients
    Eligible subjects have a confirmed germline TP53 mutation or variant, OR have a family history of LFS and clinically managed as a LFS patient, OR meet LFS diagnostic criteria including Classic, Chompret, and LFL (Birch and Eeles) criteria. Medical information contribution is required for participation in the study. Subjects also have options to contribute a one-time DNA sample, a blood sample for plasma and a stool sample every six months, as well as access to their residual clinical tissues.
  • Arm: Family Members
    Biological relative of subjects with germline TP53 mutation or variant (LFS), including first degree (siblings, parents) and second degree (grandparents, aunts, uncles) relatives. Negative for germline TP53 mutation or variant. Medical information contribution is required for participation in the study. Subjects also have options to contribute a one-time DNA sample, a stool sample, as well as access to their residual clinical tissues.
  • Arm: Household Members
    Household member of subjects with germline TP53 mutation or variant (LFS), sharing a living space (apartment or free-standing home) for at least 6 months prior to study enrollment. Medical information contribution is required for participation in the study. Subjects also have options to contribute a one-time stool sample.

Primary Outcome Measure

Descriptive clinical data of all patients with confirmed germline TP53 variants [ Time Frame: Five years ]

Central Contacts

Locations (2)

FacilityCityStateZIPSite coordinators
University of PennsylvaniaPhiladelphiaPennsylvania19104
Kara N Maxwell, MD, PhD
[email protected]
Kara N Maxwell, MD, PhD (PRINCIPAL_INVESTIGATOR)
Children's Hospital of PhiladelphiaPhildelphiaPennsylvania19104
Suzanne P MacFarland, MD
[email protected]
Suzanne P MacFarland, MD (PRINCIPAL_INVESTIGATOR)

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By research site
University of Pennsylvania· Philadelphia, PAChildren's Hospital of Philadelphia· Phildelphia, PA

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