Li-Fraumeni SyndromeNCT03176836
Li-Fraumeni Syndrome Imaging Study
A study testing Whole body STIR MRI, DW-MRI and PET-MRI in people with Li-Fraumeni Syndrome, run by The Hospital for Sick Children at 1 site in Canada.
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. Read more about this study
- Who is it for?
- Ages Up to 18 years
- Conditions the study is for
- Li-Fraumeni Syndrome
- What is being tested?
- Whole body STIR MRI, DW-MRI and PET-MRI
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 30 participants
- Where
- 1 siteCanada
- Study dates
- 20 Jun 2016to 30 Jun 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- LFS kindreds who either carry a known TP53 mutation or are obligate mutation carriers
Who cannot join
- General contraindications for an MRI scan (ferromagnetic prostheses, pacemaker, or other implants incompatible with the magnetic field of the MR scanner), claustrophobia.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
Official title: Novel Approaches to Molecular and Clinical Surveillance in Li-Fraumeni Syndrome - Pilot 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.
- Conditions
- Li-Fraumeni Syndrome
- Being tested
- Whole body STIR MRI, DW-MRI, PET-MRI
- Medical subject headings
- Li-Fraumeni Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Whole body STIR MRIDiagnostic test
Standard technique that detects abnormalities related to excess of water in tissues (edema).
DW-MRIDiagnostic test
MRI technique that analyzes areas of dead cells within tissues, present in some types of tumor.
PET-MRIDiagnostic test
MRI technique that detect's the cells' use of glucose, more intensely in harmful cells.
| Study group | Role | What they receive |
|---|---|---|
| MRI Imaging | Experimental | 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. Receives: Diagnostic Test: Whole body STIR MRI; Diagnostic Test: DW-MRI; Diagnostic Test: PET-MRI |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Through study completion, an average of 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Jun 2017
- Study start20 Jun 2016
- Primary completion31 Dec 2026 (estimated)
- Study completion30 Jun 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Li-Fraumeni SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- The Hospital for Sick Children
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Andrea Doria, The Hospital for Sick Children
- Investigators
- Andrea Doria, MD, Principal investigator, The Hospital for Sick Children
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03176836
- Sponsor's protocol ID
- 1000053416
- Status last verified
- Apr 2026
- First submitted
- 11 May 2017
- Last updated
- 29 Apr 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Novel Approaches to Molecular and Clinical Surveillance in Li-Fraumeni Syndrome - Pilot Study.
- ClinicalTrials.gov ID
- NCT03176836
- Acronym / sponsor ID
- 1000053416
- Conditions
- Li-Fraumeni Syndrome
- Study type
- Interventional
- Recruitment status
- Enrolling by invitation
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- The Hospital for Sick ChildrenUniversity, hospital or other
- Study start
- 20 Jun 2016 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- 30 Jun 2027 (estimated)
- First posted
- 6 Jun 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| MRI Imaging | Experimental | Diagnostic Test: Whole body STIR MRI, Diagnostic Test: DW-MRI, Diagnostic Test: PET-MRIParticipants 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. |
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (1 listed)
- LFS kindreds who either carry a known TP53 mutation or are obligate mutation carriers
Key exclusion criteria (1 listed)
- General contraindications for an MRI scan (ferromagnetic prostheses, pacemaker, or other implants incompatible with the magnetic field of the MR scanner), claustrophobia.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Whole body STIR MRIStandard technique that detects abnormalities related to excess of water in tissues (edema). | Diagnostic test | MRI Imaging |
| DW-MRIMRI technique that analyzes areas of dead cells within tissues, present in some types of tumor. | Diagnostic test | MRI Imaging |
| PET-MRIMRI technique that detect's the cells' use of glucose, more intensely in harmful cells. | Diagnostic test | MRI Imaging |
Primary outcome
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Apr 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Andrea Doria, MD principal investigator
The Hospital for Sick Children
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Whole body STIR MRI, DW-MRI and PET-MRI in people with Li-Fraumeni Syndrome, run by The Hospital for Sick Children at 1 site in Canada.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 29 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Evaluation of imaging traits on suspected tumors (time frame: Through study completion, an average of 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Apr 2026.