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

First listed
Sep 9, 2020
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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