Biobank for patients with Li-Fraumeni Syndrome and TP53 mutations

Clinical and Molecular Studies of Li-Fraumeni Syndrome and TP53-associated Disorders

This study is collecting health information and samples from people with Li-Fraumeni Syndrome and TP53 mutations, as well as their family members, to see how their genes affect cancer risk and to find better ways to screen for and treat these cancers.

Quick facts

• Study type: Observational
• Enrollment: 300 (estimated)
• Sex: All
• Sponsor: Abramson Cancer Center at Penn Medicine (Academic / other)
• Locations: 2 sites (Philadelphia, Pennsylvania and 1 other locations)
• Trial ID: NCT04367246 on ClinicalTrials.gov

What this trial studies

This biobank collects and stores clinical data and biospecimens from patients with Li-Fraumeni Syndrome (LFS) and related conditions caused by TP53 gene mutations. The study aims to investigate genotype-phenotype correlations, improve cancer screening methods, and explore novel treatment strategies for cancers that develop in these patients. Participants include both affected individuals with confirmed TP53 mutations and unaffected family members. Data will be gathered through both retrospective and prospective methods from clinical records and ongoing patient recruitment.

Who should consider this trial

Good fit: Ideal candidates include individuals with confirmed germline TP53 mutations or those meeting diagnostic criteria for Li-Fraumeni Syndrome, as well as their unaffected biological relatives.

Not a fit: Patients without a germline TP53 mutation or those not related to affected individuals may not benefit from this study.

Why it matters

Potential benefit: If successful, this biobank could lead to improved understanding and management of cancer risks in patients with TP53 mutations.

How similar studies have performed: Other studies focusing on genetic predisposition to cancer have shown success in improving patient outcomes and understanding disease mechanisms.

Eligibility criteria

Inclusion Criteria:

Affected Patient (Group 1)

1. Males or females aged 0 and above.
2. 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.
3. 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)

1. Males or females aged 0 and above.
2. Biological relative of subjects with germline TP53 mutation or variant (LFS), including first degree (siblings, parents) and second degree (grandparents, aunts, uncles) relatives.
3. Negative for germline TP53 mutation or variant.
4. 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)

1. Males or females aged 0 and above.
2. 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.
3. 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:

1. Parents/LAR or subjects who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures.
2. 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.

Where this trial is running

Philadelphia, Pennsylvania and 1 other locations

• University of Pennsylvania — Philadelphia, Pennsylvania, United States (Recruiting)
• Children's Hospital of Philadelphia — Phildelphia, Pennsylvania, United States (Recruiting)

Study contacts

• Principal investigator: Kara N Maxwell, MD, PhD — University of Pennsylvania
• Study coordinator: Kara N Maxwell, MD, PhD

Conditions Li-Fraumeni Syndrome; Li-Fraumeni-Like Syndrome; TP53; TP53 Mutation