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Li-Fraumeni Syndrome Imaging Study

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT03176836
Recruitment Status : Enrolling by invitation
First Posted : June 6, 2017
Last Update Posted : June 25, 2019
Sponsor:
Information provided by (Responsible Party):
Andrea Doria, 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.

Condition or disease Intervention/treatment Phase
Li-Fraumeni Syndrome Diagnostic Test: Whole body STIR MRI Diagnostic Test: DW-MRI Diagnostic Test: PET-MRI Not Applicable

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 30 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Novel Approaches to Molecular and Clinical Surveillance in Li-Fraumeni Syndrome - Pilot Study.
Actual Study Start Date : June 20, 2016
Estimated Primary Completion Date : July 1, 2020
Estimated Study Completion Date : December 31, 2020

Resource links provided by the National Library of Medicine


Arm Intervention/treatment
Experimental: MRI Imaging
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
Standard technique that detects abnormalities related to excess of water in tissues (edema).

Diagnostic Test: DW-MRI
MRI technique that analyzes areas of dead cells within tissues, present in some types of tumor.

Diagnostic Test: PET-MRI
MRI technique that detect's the cells' use of glucose, more intensely in harmful cells.




Primary Outcome Measures :
  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.



Information from the National Library of Medicine

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Ages Eligible for Study:   up to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03176836


Locations
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Canada, Ontario
The Hospital for Sick Children
Toronto, Ontario, Canada, M5G 1X8
Sponsors and Collaborators
The Hospital for Sick Children
Investigators
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Principal Investigator: Andrea Doria, MD The Hospital for Sick Children

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Responsible Party: Andrea Doria, Radiologist, Senior Scientist, Research Director, Department of Diagnostic Imaging, The Hospital for Sick Children
ClinicalTrials.gov Identifier: NCT03176836     History of Changes
Other Study ID Numbers: 1000053416
First Posted: June 6, 2017    Key Record Dates
Last Update Posted: June 25, 2019
Last Verified: June 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
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Syndrome
Li-Fraumeni Syndrome
Disease
Pathologic Processes
Neoplastic Syndromes, Hereditary
Neoplasms
Genetic Diseases, Inborn
DNA Repair-Deficiency Disorders
Metabolic Diseases