Status:
RECRUITING
Li-Fraumeni Syndrome/TP53 Biobank
Lead Sponsor:
Abramson Cancer Center at Penn Medicine
Collaborating Sponsors:
Children's Hospital of Philadelphia
Conditions:
Li-Fraumeni Syndrome
Li-Fraumeni-Like Syndrome
Eligibility:
All Genders
Brief Summary
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 ...
Detailed Description
Context: 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 ma...
Eligibility Criteria
Inclusion
- 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
- 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.
Key Trial Info
Start Date :
September 24 2019
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
September 24 2029
Estimated Enrollment :
300 Patients enrolled
Trial Details
Trial ID
NCT04367246
Start Date
September 24 2019
End Date
September 24 2029
Last Update
August 14 2025
Active Locations (2)
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1
University of Pennsylvania
Philadelphia, Pennsylvania, United States, 19104
2
Children's Hospital of Philadelphia
Phildelphia, Pennsylvania, United States, 19104