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Can a gene biobank unlock better cancer screening for Li-Fraumeni families?

NCT ID NCT04367246

Knowledge-focused Sponsor: Abramson Cancer Center at Penn Medicine Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Sep 04, 2026 · Last updated Sep 04, 2026

Summary

This study creates a database and biobank for people with Li-Fraumeni syndrome or related TP53 gene changes, conditions that raise the lifetime risk of cancer to as high as 90%. Researchers will collect clinical data, blood samples, and tumor tissue from up to 300 participants to study how different TP53 mutations affect cancer risk and tumor biology. They also aim to test whether blood-based markers, like circulating tumor DNA, can detect cancer earlier than current imaging and lab tests. The goal is to improve screening and open doors to precision medicine for this high-risk population.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
This study could improve cancer screening for people with Li-Fraumeni syndrome and uncover tumor features that guide personalized treatments.
What could go wrong
This is an observational biobank study, not a treatment trial. It may take years to gather enough data, and findings may not change care quickly.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 300 people

The number the study aims to enrol. It can still change while the study runs.

Started

Sep 2019

Expected to finish

Sep 2029

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Patients with LFS/ LFL, family members, and household members

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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.

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Conditions

The condition(s) this trial relates to.

Li-Fraumeni syndrome Li-fraumeni-like syndrome

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Li-Fraumeni syndrome Li-Fraumeni-like syndrome

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    2 sites. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Children's Hospital of Philadelphia

    RECRUITING

    Phildelphia, Pennsylvania, 19104, United States

  • University of Pennsylvania

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

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