Li-Fraumeni & TP53 (LiFT UP): Understanding and Progress

Part of paid clinical trials in Boston, Massachusetts.

Sponsor
Dana-Farber Cancer Institute
Study ID
NCT04541654
Status
Recruiting
Apply to this trial

Conditions

  • Clonal Hematopoiesis
  • Hereditary Cancer Syndrome
  • Li-Fraumeni Syndrome
  • Mosaicism
  • TP53 Gene Mutation

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Not accepted

Interventions

  • Data and Specimen Collection — GENETIC
    * Provide research team and access to relevant medical records * Answer short questionnaires periodically * Consider consenting to other optional parts of the research such as: * Providing up to 3 tubes (15ml) of blood at or near the time of consent, as approved by treating physician (optional). * Provide a saliva sample (optional). * Provide eyebrow hairs for analysis of DNA from the bulb (15-20 eyebrow plucks) (optional). * Provide permission for obtainment of stored tissue specimens from cancer or pre-cancer surgeries or biopsies from the pathology departments where they have been stored (optional). * Consider inviting relatives to join the study (optional).

Study Details

The purpose of this research study is to learn more about variants in the TP53 gene both associated with Li-Fraumeni Syndrome (LFS), a hereditary cancer risk condition, and TP53 variants found in the blood for other reasons (e.g. ACE/CHIP and mosaicism).

Key Dates

Start date
Sep 15, 2020
Status verified
Mar 2026
Primary completion
Dec 31, 2030
Completion
Dec 31, 2032

Study Design

Enrollment
1,500 participants (estimated)

Arms

  • Arm: Variant in the TP53 Gene in blood or saliva
    Variant in the TP53 gene found on a blood or saliva test, have a relative with a variant in the TP53 gene, or because participant meets genetic testing criteria for Li-Fraumeni Syndrome (LFS) based on personal or family cancer history

Primary Outcome Measure

Repository of specimens and data [ Time Frame: 5 years or Study closure ]

Central Contacts

Locations (3)

FacilityCityStateZIPSite coordinators
Boston Children's HospitalBostonMassachusetts02115
JUNNE KAMIHARA, MD
[email protected]
888-733-4662
JUNNE KAMIHARA, MD (PRINCIPAL_INVESTIGATOR)
Brigham and Women's HospitalBostonMassachusetts02215
Judy Garber, MD, MPH
[email protected]
617-632-2282
Judy Garber, MD, MPH (PRINCIPAL_INVESTIGATOR)
Judy E. GarberBostonMassachusetts02215
Judy E. Garber, MD, MPH
[email protected]
617-763-8821
Judy Garber, MD, MPH (PRINCIPAL_INVESTIGATOR)

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By research site
Boston Children's Hospital· Boston, MABrigham and Women's Hospital· Boston, MAJudy E. Garber· Boston, MA

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