Li-Fraumeni SyndromeNCT02950987
Screening With Whole Body MRI For Detection Of Primary Tumors In Children And Adults With Li-Fraumeni Syndrome (LFS) And Other Cancer Predisposition Syndromes
A study testing Whole Body MRI in people with Li-Fraumeni Syndrome, run by Dana-Farber Cancer Institute at 3 sites in United States.
Trial summary
This study is evaluating Whole Body MRI as a possible screening tool to diagnose cancer for people with LFS and other inherited cancer predisposition syndromes. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Li-Fraumeni Syndrome
- What is being tested?
- Whole Body MRI
- Type of treatment
- Medical device
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 150 participants
- Where
- 3 sitesUnited States
- Study dates
- Mar 2012to Dec 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Adults
- Individuals greater than or equal to 18 years of age.
- Individuals with "Li Fraumeni Syndrome" defined as one of the following:
- Carriers of a germline p53 mutation
- Members of families meeting classic LFS criteria by family history without an identifiable p53 mutation
- Obligate carrier by pedigree (these individuals can be offered testing but are still eligible if they defer). The following examples describe "obligate carriers by pedigree."
Show all 45Show fewer
- A child of a parent with known p53 mutation that is diagnosed with cancer
- An individual with a sibling and a child who are p53 positive -OR-
- Individuals with an inherited cancer predisposition syndrome as defined by one of the following:
- Hereditary Retinoblastoma with a germline Rb mutation
- Diagnosis of Hereditary Paraganglioma/Pheochromocytoma Syndrome with a germline SDH mutation
- Diagnosis of Multiple Endocrine Neoplasia, Type 1 or 2, with a germline MEN mutation
- New diagnosis of opsoclonus-myoclonus with a negative cancer work-up upon presentation of symptoms
- Familial Neuroblastoma with a germline ALK mutation
- Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD syndrome) or Congenital central hypoventilation syndrome (CCHS) with or without a germline PHOX 2B mutation
- Von Hippel-Lindau with a VHL mutation
- Women with an abnormal cell-free DNA test (i.e. a non-invasive prenatal test (NIPT) to detect chromosomal abnormalities) and no cancer diagnosis
- Other rare cancer predisposition syndromes at the discretion of the treating physician and study physicians
- NOTE: Individuals with any of the above-listed cancer predisposition syndromes (apart from Li Fraumeni syndrome) are likewise eligible in the absence of a known mutation if they are an obligate carrier by pedigree.
- Individuals can have a prior history of cancer; these individuals must be in stable remission and at least 6 months out from the completion of surgery/radiation\ therapy/chemotherapy.
- Individual cases can be reviewed with the institutional principal investigator.
- Individuals not pregnant at enrollment. Female subjects of childbearing potential will undergo a pregnancy test prior to imaging.
- Individuals able to give informed consent or a signature from a designated health care proxy or legal guardian.
- Children
- Individuals who are less than 18 years of age
- Individuals with "Li Fraumeni Syndrome" defined as one of the following:
- Carriers of a germline p53 mutation OR
- Members of families meeting classic LFS criteria by family history without an identifiable p53 mutation OR
- Obligate carrier by pedigree (these individuals can be offered testing but are still eligible if they defer). The following examples describe "obligate carriers by pedigree."
- A child of a parent with known p53 mutation that is diagnosed with cancer
- An individual with a sibling and a child who are p53 positive -OR-
- Individuals with an inherited cancer predisposition syndrome as defined by one of the following:
- Hereditary Retinoblastoma with a germline Rb mutation
- Diagnosis of Hereditary Paraganglioma/Pheochromocytoma Syndrome with a germline SDH mutation
- Diagnosis of Multiple Endocrine Neoplasia, Type 1 or 2, with a germline MEN mutation
- New diagnosis of opsoclonus-myoclonus with a negative cancer work-up upon presentation of symptoms
- Familial Neuroblastoma with a germline ALK mutation
- Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD syndrome) or Congenital central hypoventilation syndrome (CCHS) with or without a germline PHOX 2B mutation
- Von Hippel-Lindau with a VHL mutation
- Other rare cancer predisposition syndrome at the discretion of the treating physician and study physicians
- NOTE: Individuals with any of the above-listed cancer predisposition syndromes (apart from Li Fraumeni syndrome) are likewise eligible in the absence of a known mutation if they are an obligate carrier by pedigree.
- Individuals can have a prior history of cancer; these individuals must be in stable remission and at least 6 months out from the completion of surgery/radiation therapy/chemotherapy. Individual cases can be reviewed with the institutional principal investigator.
- Individuals not pregnant at enrollment. Female subjects of childbearing potential will undergo a pregnancy test prior to imaging.
- Signed document of informed consent completed by the parent or legal guardian
- Signed document of assent obtained if child ≥10 years of age
Who cannot join
- Adults and Children
- Active cancer or metastatic disease, except in the case of Stage 0 Chronic Lymphocytic Leukemia or nonmelanoma skin cancer.
- Patients with a contraindication to sedation or general anesthesia
- Patients with a metal heart valve, surgical clips, a pacemaker or any other indwelling metal device that might interfere with MRI
- Females who are pregnant or nursing
Trial locations and contacts
3 sites in 1 country.
United States3 sites
Dana Farber Cancer Institute
Boston, Massachusetts, 02115
Memorial Sloan-Kettering Cancer Center
New York, New York, 10065
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
About this study
This study is evaluating Whole Body MRI as a possible screening tool to diagnose cancer for people with LFS and other inherited cancer predisposition syndromes.
Read the detailed description
Individuals who carry the TP53 mutation have a higher risk of developing different types of cancer over their lifetimes. This gene has been associated with Li Fraumeni syndrome in some families, but not all families that have cancer histories consistent with Li Fraumeni syndrome will have the mutation. Currently, there is no standard method of monitoring LFS carriers, family members, or others individuals with cancer predisposition syndromes to detect cancers in the early stages, when they may be more easily treated.
The main aim of the study is to test a relatively new medical technology called Whole Body Magnetic Resonance Imaging (MRI), in patients with these syndromes, to see if cancers can be detected at an early stage which may, in turn, allow for more effective treatment. The investigators have chosen Whole Body MRI scanning because this scan allows doctors to look at the entire body in one examination. By using this technology, participants are not exposed to radiation, which is of particular importance for individuals who have a higher cancer risk due to a diagnosis of LFS.
- Conditions
- Li-Fraumeni Syndrome
- Being tested
- Whole Body MRI
- Keywords
- Li-Fraumeni Syndrome (LFS), Cancer Predisposition Syndromes, LFS
- 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 MRIDevice
| Study group | Role | What they receive |
|---|---|---|
| Whole Body MRI | Experimental | * Magnetic resonance imaging will be performed on participants
* Participants who are two young to tolerate the scans awake, can receive sedation/anesthesia Receives: Device: Whole Body MRI |
What is being measured
The primary outcome is the main question the study is designed to answer.
Return of pediatric and adult patients with Li Fraumeni Syndrome year-after-year for 4 annual scans.
Successful return of patients for four annual scans will be recorded.
Measured: 4 years
Secondary outcomes (3)
Return of pediatric and adult patients with other cancer predisposition syndromes year-after-year for 4 annual scans.
Successful return of patients for four annual scans will be recorded.
Measured: 4 years
Detection of prevalent and incident cancers on WB-MRI in pediatric and adult patients with Li Fraumeni and other inherited cancer predisposition syndromes.
Tabulation of all follow-up imaging studies, biopsies, and cancer diagnoses will be pursued.
Measured: 3 years
Detection of prevalent and incident cancers on additional screening studies in pediatric and adult patients with Li Fraumeni and other inherited cancer predisposition syndromes.
Tabulation of all follow-up imaging studies, biopsies, and cancer diagnoses will be pursued.
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Nov 2016 (estimated)
- Study startMar 2012
- Primary completionDec 2027 (estimated)
- Study completionDec 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.
- More trials run by Dana-Farber Cancer InstituteThe sponsor's other registered studies.
- 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
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 150 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Dana-Farber Cancer Institute
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Allison O'Neill, MD, Dana-Farber Cancer Institute
- Investigators
- Allison O'Neill, MD, Principal investigator, Dana-Farber Cancer Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02950987
- Sponsor's protocol ID
- 11-200
- Status last verified
- Jan 2026
- First submitted
- 11 Oct 2016
- Last updated
- 7 Jan 2026
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Screening With Whole Body MRI For Detection Of Primary Tumors In Children And Adults With Li-Fraumeni Syndrome (LFS) And Other Cancer Predisposition Syndromes
- ClinicalTrials.gov ID
- NCT02950987
- Acronym / sponsor ID
- 11-200
- Conditions
- Li-Fraumeni Syndrome
- Keywords
- Li-Fraumeni Syndrome (LFS), Cancer Predisposition Syndromes, LFS
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- Dana-Farber Cancer InstituteUniversity, hospital or other
- Study start
- Mar 2012 (actual)
- Primary completion
- Dec 2027 (estimated)
- Study completion
- Dec 2027 (estimated)
- First posted
- 1 Nov 2016 (estimated)
- 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.
This study is evaluating Whole Body MRI as a possible screening tool to diagnose cancer for people with LFS and other inherited cancer predisposition syndromes.
Detailed description
Individuals who carry the TP53 mutation have a higher risk of developing different types of cancer over their lifetimes. This gene has been associated with Li Fraumeni syndrome in some families, but not all families that have cancer histories consistent with Li Fraumeni syndrome will have the mutation. Currently, there is no standard method of monitoring LFS carriers, family members, or others individuals with cancer predisposition syndromes to detect cancers in the early stages, when they may be more easily treated.
The main aim of the study is to test a relatively new medical technology called Whole Body Magnetic Resonance Imaging (MRI), in patients with these syndromes, to see if cancers can be detected at an early stage which may, in turn, allow for more effective treatment. The investigators have chosen Whole Body MRI scanning because this scan allows doctors to look at the entire body in one examination. By using this technology, participants are not exposed to radiation, which is of particular importance for individuals who have a higher cancer risk due to a diagnosis of LFS.
Study design
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Whole Body MRI | Experimental | Device: Whole Body MRI* Magnetic resonance imaging will be performed on participants * Participants who are two young to tolerate the scans awake, can receive sedation/anesthesia |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (45 listed)
- Adults
- Individuals greater than or equal to 18 years of age.
- Individuals with "Li Fraumeni Syndrome" defined as one of the following:
- A child of a parent with known p53 mutation that is diagnosed with cancer
- An individual with a sibling and a child who are p53 positive -OR-
Key exclusion criteria (5 listed)
- Adults and Children
- Active cancer or metastatic disease, except in the case of Stage 0 Chronic Lymphocytic Leukemia or nonmelanoma skin cancer.
- Patients with a contraindication to sedation or general anesthesia
- Patients with a metal heart valve, surgical clips, a pacemaker or any other indwelling metal device that might interfere with MRI
- Females who are pregnant or nursing
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 MRI | Device | Whole Body MRI |
Primary outcome
Return of pediatric and adult patients with Li Fraumeni Syndrome year-after-year for 4 annual scans.
Time frame: 4 years
Successful return of patients for four annual scans will be recorded.
3 secondary outcomes
Return of pediatric and adult patients with other cancer predisposition syndromes year-after-year for 4 annual scans.
Time frame: 4 years
Detection of prevalent and incident cancers on WB-MRI in pediatric and adult patients with Li Fraumeni and other inherited cancer predisposition syndromes.
Time frame: 3 years
Detection of prevalent and incident cancers on additional screening studies in pediatric and adult patients with Li Fraumeni and other inherited cancer predisposition syndromes.
Time frame: 3 years
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 7 Jan 2026.
- Individual participant dataSharing planned: No
Related trials for Li-Fraumeni Syndrome
Not yet recruitingObservational study
Clinical Genetics Branch Eligibility Screening Survey
Melanoma, Li-Fraumeni Syndrome
Not yet recruiting
Reduce All Avoidable Cancer-promoting Exposures in Individuals at High Genetic Risk of Cancer Carrying a Constitutional Variant of the TP53 Gene
Adult Carriers of a Pathogenic or Probably Pathogenic (Class 4 and 5) Germline Variation in the TP53 Gene
RecruitingObservational study
Clinical and Genetic Studies of Li-Fraumeni Syndrome
Li-Fraumeni Syndrome, Neoplasms
RecruitingObservational study
Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System
Metabolic Disease, Obesity
RecruitingObservational study
CfDNA in Hereditary And High-risk Malignancies 2
Hereditary Cancer Syndrome
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. This study is not recruiting at the moment.
Allison O'Neill, MD principal investigator
Dana-Farber Cancer Institute
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Whole Body MRI in people with Li-Fraumeni Syndrome, run by Dana-Farber Cancer Institute at 3 sites in United States.
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 45 inclusion and 5 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: under way, not looking for participants, as of the sponsor's last update on 7 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States. 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?
Return of pediatric and adult patients with Li Fraumeni Syndrome year-after-year for 4 annual scans. (time frame: 4 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 7 Jan 2026.