Li-Fraumeni Syndrome Imaging Study
Primary Purpose
Li-Fraumeni Syndrome
Status
Enrolling by invitation
Phase
Not Applicable
Locations
Canada
Study Type
Interventional
Intervention
Whole body STIR MRI
DW-MRI
PET-MRI
Sponsored by
About this trial
This is an interventional diagnostic trial for Li-Fraumeni Syndrome
Eligibility Criteria
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.
Sites / Locations
- The Hospital for Sick Children
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
MRI Imaging
Arm Description
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.
Outcomes
Primary Outcome Measures
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.
Secondary Outcome Measures
Full Information
NCT ID
NCT03176836
First Posted
May 11, 2017
Last Updated
April 21, 2023
Sponsor
The Hospital for Sick Children
1. Study Identification
Unique Protocol Identification Number
NCT03176836
Brief Title
Li-Fraumeni Syndrome Imaging Study
Official Title
Novel Approaches to Molecular and Clinical Surveillance in Li-Fraumeni Syndrome - Pilot Study.
Study Type
Interventional
2. Study Status
Record Verification Date
April 2023
Overall Recruitment Status
Enrolling by invitation
Study Start Date
June 20, 2016 (Actual)
Primary Completion Date
July 1, 2025 (Anticipated)
Study Completion Date
December 31, 2025 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Principal Investigator
Name of the Sponsor
The Hospital for Sick Children
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
Yes
5. Study Description
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Li-Fraumeni Syndrome
7. Study Design
Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
30 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
MRI Imaging
Arm Type
Experimental
Arm Description
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.
Intervention Type
Diagnostic Test
Intervention Name(s)
Whole body STIR MRI
Intervention Description
Standard technique that detects abnormalities related to excess of water in tissues (edema).
Intervention Type
Diagnostic Test
Intervention Name(s)
DW-MRI
Intervention Description
MRI technique that analyzes areas of dead cells within tissues, present in some types of tumor.
Intervention Type
Diagnostic Test
Intervention Name(s)
PET-MRI
Intervention Description
MRI technique that detect's the cells' use of glucose, more intensely in harmful cells.
Primary Outcome Measure Information:
Title
Evaluation of imaging traits on suspected tumors
Description
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.
Time Frame
Through study completion, an average of 2 years
10. Eligibility
Sex
All
Maximum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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.
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Andrea Doria, MD
Organizational Affiliation
The Hospital for Sick Children
Official's Role
Principal Investigator
Facility Information:
Facility Name
The Hospital for Sick Children
City
Toronto
State/Province
Ontario
ZIP/Postal Code
M5G 1X8
Country
Canada
12. IPD Sharing Statement
Plan to Share IPD
No
Learn more about this trial
Li-Fraumeni Syndrome Imaging Study
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