| NCT ID | NCT04367246 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Abramson Cancer Center at Penn Medicine |
| Condition | Li-Fraumeni Syndrome |
| Study Type | OBSERVATIONAL |
| Enrollment | 300 participants |
| Start Date | 2019-09-24 |
| Primary Completion | 2029-09-24 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 300 participants in total. It began in 2019-09-24 with a primary completion date of 2029-09-24.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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 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.
Eligibility Criteria
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.
Contact & Investigator
Kara N Maxwell, MD, PhD
PRINCIPAL INVESTIGATOR
University of Pennsylvania
Frequently Asked Questions
Who can join the NCT04367246 clinical trial?
This trial is open to participants of all sexes, studying Li-Fraumeni Syndrome. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT04367246 currently recruiting?
Yes, NCT04367246 is actively recruiting participants. Contact the research team at LFS@pennmedicine.upenn.edu for enrollment information.
Where is the NCT04367246 trial being conducted?
This trial is being conducted at Philadelphia, United States, Phildelphia, United States.
Who is sponsoring the NCT04367246 clinical trial?
NCT04367246 is sponsored by Abramson Cancer Center at Penn Medicine. The principal investigator is Kara N Maxwell, MD, PhD at University of Pennsylvania. The trial plans to enroll 300 participants.