Biobank for patients with Li-Fraumeni Syndrome and TP53 mutations

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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
• Email: LFS@pennmedicine.upenn.edu
• Phone: 215-898-9698

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Registry for Li Fraumeni and Li Fraumeni-Like Syndromes

  This study is creating a registry to gather information from people with Li-Fraumeni and Li-Fraumeni-Like Syndromes to help understand these conditions better and improve diagnosis and research.

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• Using video capsules to examine patients with Lynch Syndrome

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• Understanding genetic causes of neuroendocrine tumors in Mexican patients

  This study is trying to find out the genetic changes that cause neuroendocrine tumors in Mexican patients to help develop better treatments.

  Recruiting at 3 sites Universidad Nacional Autonoma de Mexico · Mexico City, Mexico City and 2 other locations · NCT06523582

• Using arsenic trioxide with chemotherapy to treat pediatric cancer with p53 mutations

  This study is testing if adding arsenic trioxide to chemotherapy can help children with Li-Fraumeni syndrome and p53 mutations fight their cancer more safely.

  Recruiting Phase 2 Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University · Guangzhou, Guangdong · NCT06088030

• Evaluating willingness to participate in genetic counseling comparison

  This study is trying to see how willing people with Li-Fraumeni syndrome are to join a future trial comparing regular genetic counseling to personalized genetic counseling.

  Recruiting M.D. Anderson Cancer Center · Houston, Texas · NCT05126810

• Understanding Li-Fraumeni Syndrome and TP53 Variants

  This study is trying to understand cancer risks in people with Li-Fraumeni Syndrome or TP53 gene changes to help improve prevention and treatment options.

  Recruiting at 3 sites Dana-Farber Cancer Institute · Boston, Massachusetts and 2 other locations · NCT04541654

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.