Li-Fraumeni Syndrome Imaging Study

Li-Fraumeni Syndrome Clinical Trial

Official title:

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

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT03176836
• Other study ID #: 1000053416
• Status: Enrolling by invitation
• Phase: N/A
• Start date: June 20, 2016
• Est. completion date: December 31, 2025

Study information

• Verified date: April 2023
• Source: The Hospital for Sick Children
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 30
• Est. completion date: December 31, 2025
• Est. primary completion date: July 1, 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 18 Years

Eligibility

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.

Related Conditions & MeSH terms

• Li-Fraumeni Syndrome
• Syndrome

Intervention

Diagnostic Test:
• Whole body STIR MRI
Standard technique that detects abnormalities related to excess of water in tissues (edema).
• DW-MRI
MRI technique that analyzes areas of dead cells within tissues, present in some types of tumor.
• PET-MRI
MRI technique that detect's the cells' use of glucose, more intensely in harmful cells.

Locations

Country	Name	City	State
Canada	The Hospital for Sick Children	Toronto	Ontario

Sponsors (1)

Lead Sponsor	Collaborator
The Hospital for Sick Children

Country where clinical trial is conducted

Canada, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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