Li-Fraumeni Syndrome/TP53 Biobank

Plain-language summary

This study aims to build a biobank by collecting samples from people with Li-Fraumeni syndrome or a TP53 gene mutation, along with unaffected family members. People of any age with a confirmed germline TP53 mutation or who meet the diagnostic criteria, plus their biological family members, can take part. It is a non-phase biobank study and is currently recruiting participants.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Recruiting

Sponsor

Abramson Cancer Center at Penn Medicine

Intervention

No Intervention

Start date

9/24/2019

Estimated completion

9/24/2029

Countries

United States

Related genes

Locations

• Philadelphia, United States
• Phildelphia, United States

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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.