Skip to content
Bored Studies
RecruitingAccepts healthy volunteers

Li-Fraumeni Syndrome/TP53 Biobank

Abramson Cancer Center at Penn Medicine · with Children's Hospital of Philadelphia · NCT04367246

View Study & Apply (opens in a new tab)

Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Any age listed · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
300
US sites recruiting
2
Study start
September 24, 2019
Record last updated
September 4, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

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.

Being studied: No Intervention

Conditions: Li-Fraumeni Syndrome; Li-Fraumeni-Like Syndrome

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full criteria

Inclusion Criteria

Affected Patient (Group 1)

  • Males or females aged 0 and above.
  • Confirmed germline TP53 mutation or variant. OR 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.
  • Informed consent for capable participants. OR Parental/legally authorized representative permission (informed consent) for pediatric participants or subjects with diminished capacity, and if appropriate, assent.

Unaffected Family Member (Group 2)

  • Males or females aged 0 and above.
  • 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.
  • Informed consent for capable participants. OR Parental/legally authorized representative permission (informed consent) for pediatric participants or subjects with diminished capacity, and if appropriate, assent.

Household Member (Group 3)

  • Males or females aged 0 and above.
  • 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.
  • Informed consent for capable participants. OR Parental/legally authorized representative (LAR) permission (informed consent) for pediatric participants or subjects with diminished capacity, and if appropriate, assent.

Exclusion Criteria

  • Parents/LAR or subjects who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures.
  • Known pregnancy at the time of study enrollment.

Subjects that do not meet all of the enrollment criteria may not be enrolled. Pregnant women will not be actively enrolled, but if a woman becomes pregnant she will not be removed from the study; sample collection will be held during known pregnancy.

Recruiting US locations

  • University of Pennsylvania

    Philadelphia, PA 19104

    Site contact: Kara N Maxwell, MD, PhD · LFS@pennmedicine.upenn.edu

  • Children's Hospital of Philadelphia

    Phildelphia, PA 19104

    Site contact: Suzanne P MacFarland, MD · LFS@chop.edu

Study contacts (from the official record)

  • Kara N Maxwell, MD, PhD · 215-898-9698 · LFS@pennmedicine.upenn.edu
  • Miche Duvall · LFS@chop.edu
All healthy volunteers studies in Pennsylvania →
Li-Fraumeni Syndrome/TP53 Biobank (NCT04367246) | Bored Studies