Li-Fraumeni Syndrome Imaging Study

Not Applicable

• Conditions: Li-Fraumeni Syndrome
• Interventions: Diagnostic Test: Whole body STIR MRI; Diagnostic Test: DW-MRI; Diagnostic Test: PET-MRI

• Registration Number: NCT03176836
• Lead Sponsor: The Hospital for Sick Children

Brief Summary

Li-Fraumeni Syndrome (LFS) is a cancer predisposition disorder in which most affected individuals develop cancer during their lifetime. The majority of LFS patients carry a mutation in a gene called TP53, whose normal function is to control cell growth and prevent cells with damaged DNA from becoming cancerous. There is currently no way to determine when, where or what type of tumour will develop. This project will use novel techniques utilizing magnetic resonance imaging (MRI) to determine how sensitive they are at detecting very small tumors and how specific they are in terms of distinguishing malignant tumors from benign tumors.

Detailed Description

Not available

Study Timeline

• Study Start: 2016-06-20
• Study First Submitted: 2017-05-11
• Study First Submitted QC: 2017-06-01
• Study First Posted: 2017-06-06
• Status Verified: 2024-11
• Last Update Submitted: 2024-12-09
• Last Update Posted: 2024-12-13
• Primary Completion: 2025-07-01
• Study Completion: 2025-12-31

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: All
• Target Recruitment: 30

Inclusion Criteria

• LFS kindreds who either carry a known TP53 mutation or are obligate mutation carriers

Exclusion Criteria

• General contraindications for an MRI scan (ferromagnetic prostheses, pacemaker, or other implants incompatible with the magnetic field of the MR scanner), claustrophobia.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
MRI Imaging	PET-MRI	Participants will be imaged with the standard MRI technique (STIR-MRI) and also new MRI techniques called "diffusion weighted" or "DW" MRI and Positron Emission Tomography (PET)-MRI. PET-MRI will be indicated if the results from the routine MRI and DW MRI are contradictory or if laboratory results do not correspond to the standard MRI and DW MRI results.
MRI Imaging	Whole body STIR MRI	Participants will be imaged with the standard MRI technique (STIR-MRI) and also new MRI techniques called "diffusion weighted" or "DW" MRI and Positron Emission Tomography (PET)-MRI. PET-MRI will be indicated if the results from the routine MRI and DW MRI are contradictory or if laboratory results do not correspond to the standard MRI and DW MRI results.
MRI Imaging	DW-MRI	Participants will be imaged with the standard MRI technique (STIR-MRI) and also new MRI techniques called "diffusion weighted" or "DW" MRI and Positron Emission Tomography (PET)-MRI. PET-MRI will be indicated if the results from the routine MRI and DW MRI are contradictory or if laboratory results do not correspond to the standard MRI and DW MRI results.

Primary Outcome Measures

Name	Time	Method
Evaluation of imaging traits on suspected tumors	Through study completion, an average of 2 years	Imaging traits include: signal heterogeneity, mass effect, and neurovascular bundle involvement (recorded on STIR MRI); necrosis, and signal/necrosis ratio (recorded on STIR and DW MRI): FDG metabolic activity and uptake (PET-MRI) or other additional imaging findings. Results will be combined and analyzed for "extraction" of imaging-gene expression phenotypes.

Trial Locations

Locations (1)

The Hospital for Sick Children; 🇨🇦 Toronto, Ontario, Canada