Li-Fraumeni Syndrome Imaging Study
- Conditions
- Li-Fraumeni Syndrome
- 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
Recruitment & Eligibility
- Status
- ENROLLING_BY_INVITATION
- Sex
- All
- Target Recruitment
- 30
- LFS kindreds who either carry a known TP53 mutation or are obligate mutation carriers
- 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
- 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.
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
The Hospital for Sick Children
🇨🇦Toronto, Ontario, Canada
The Hospital for Sick Children🇨🇦Toronto, Ontario, Canada