Skip to main content
OpenTrials
Enrolling by Invitation

NCT Number: NCT03176836

Li-Fraumeni Syndrome Imaging Study

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.

Enrolling by Invitation

Interested in participating?

Request Info

Key information

Conditions

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

Age range

Up to 18 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

The Hospital for Sick Children

Toronto, Ontario, M5G 1X8, Canada

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Whole body STIR MRI

Diagnostic Test

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

DW-MRI

Diagnostic Test

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

PET-MRI

Diagnostic Test

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

Primary outcomes

  1. Evaluation of imaging traits on suspected tumors

    Time frame: 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.

Sponsors and collaborators

Lead sponsor

The Hospital for Sick Children

Other

Registry information

Official study title

Novel Approaches to Molecular and Clinical Surveillance in Li-Fraumeni Syndrome - Pilot Study.

Important dates

Study start
2016
Primary completion
2026
Study completion
2027
First posted
Jun 6, 2017
Registry last updated
Apr 29, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.