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Li-Fraumeni Syndrome/TP53 Biobank
NCT04367246 · View on ClinicalTrials.gov ↗
Study 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 risk between 80-90%, with 21% of those cancers occurring by the age of 15 years. There are established guidelines for screening patients with LFS that have led to earlier detection and treatment of cancer in this population. There are a number of important issues facing patients identified to have germline TP53 variations. First, with the advent of massively parallel sequencing, increasing numbers of patients are now being identified with a wide range of clinical phenotypes associated with germline TP53 mutations, and the natural history of these patients is less well understood. Second, surveillance for malignancy in LFS and other TP53-associated syndromes involves frequent laboratory and radiologic studies that are imperfect measures of disease onset; therefore, more specific, less invasive biomarker-driven screening methods are needed. Finally, studies to date have not yet identified whether tumors which form in LFS or other germline TP53-associated tumors have unique aberrations or signatures that could be exploited in precision medicine treatment of these patients. In order to study these important issues in LFS, this protocol will establish a TP53 Clinical Database and Biobank. The Investigator plans to use this biobank to study genotype-phenotype correlations in patients with LFS and other germline TP53-associated syndromes, mechanisms of tumor formation, and novel methods of cancer screening in this high risk population.
Conditions Studied
Interventions
- OTHER No Intervention
Study Locations (2)
Pennsylvania
- University of Pennsylvania — Philadelphia
- Children's Hospital of Philadelphia — Phildelphia
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 300 participants |
| Start Date | 2019-09-24 |
| Est. Completion | 2029-09-24 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT04367246
The ClinicalTrials.gov registry entry for NCT04367246 describes a study currently listed as recruiting. It is categorized as an unspecified phase, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. The registered enrollment target is 300 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is Abramson Cancer Center at Penn Medicine, which has 332 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
The record links to 2 conditions, with Li-Fraumeni Syndrome appearing as the primary indexed condition, and to 1 intervention — of which No Intervention is the first listed. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.
Geographic footprint matters for practical reasons: NCT04367246 reports 2 study locations spanning 1 distinct geographic area — top geographies include Pennsylvania. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.
Frequently Asked Questions
What is clinical trial NCT04367246 about?
NCT04367246 is a clinical study titled "Li-Fraumeni Syndrome/TP53 Biobank". 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 risk between 80-90%, with 21% of those cancers occurring by the age of 15 years. There are establish...
What is the current status of trial NCT04367246?
This trial is currently recruiting. The enrollment target is 300 participants. The study started on 2019-09-24. Estimated completion is 2029-09-24.
What conditions does trial NCT04367246 study?
This clinical trial studies the following conditions: Li-Fraumeni Syndrome, Li-Fraumeni-Like Syndrome. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
What interventions are being tested in trial NCT04367246?
The interventions under investigation include: No Intervention (OTHER). Each intervention is being evaluated for safety and efficacy as part of this clinical study.
Who is sponsoring clinical trial NCT04367246?
This trial is sponsored by Abramson Cancer Center at Penn Medicine, which has 332 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
Where is trial NCT04367246 being conducted?
This trial has 2 study locations across Pennsylvania. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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