Li-Fraumeni Syndrome Imaging Study

NCT03176836 | Enrolling By Invitation DMC

• 1 other identifier: 1000053416
• Study Type: interventional
• Target: 30
• Locations: 1 country
• Sites: 1

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.

Conditions

Li-Fraumeni Syndrome

Outcome Measures

Primary Outcomes (1)

• Evaluation of imaging traits on suspected tumors

  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.

  Through study completion, an average of 2 years

Study Arms (1)

MRI Imaging

EXPERIMENTAL

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.

Diagnostic Test: Whole body STIR MRI; Diagnostic Test: DW-MRI; Diagnostic Test: PET-MRI

Interventions

Whole body STIR MRI DIAGNOSTIC_TEST

Standard technique that detects abnormalities related to excess of water in tissues (edema).

MRI Imaging

DW-MRI DIAGNOSTIC_TEST

MRI technique that analyzes areas of dead cells within tissues, present in some types of tumor.

MRI Imaging

PET-MRI DIAGNOSTIC_TEST

MRI technique that detect's the cells' use of glucose, more intensely in harmful cells.

MRI Imaging

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• The Hospital for Sick Children: lead

Study Sites (1)

The Hospital for Sick Children

Toronto, Ontario, M5G 1X8, Canada

Location

MeSH Terms

Conditions

Li-Fraumeni Syndrome

Interventions

Diffusion Magnetic Resonance Imaging

Condition Hierarchy (Ancestors)

Neoplastic Syndromes, Hereditary; Neoplasms; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Magnetic Resonance Imaging; Tomography; Diagnostic Imaging; Diagnostic Techniques and Procedures; Diagnosis

Study Officials

• Andrea Doria, MD

  The Hospital for Sick Children

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Radiologist, Senior Scientist, Research Director, Department of Diagnostic Imaging

Study Record Dates

• First Submitted: May 11, 2017
• First Posted: June 6, 2017
• Study Start: June 20, 2016
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): June 30, 2027
• Last Updated: April 29, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

CA (1)