Clinical trial · Interventional
Screening With Whole Body MRI For Detection Of Primary Tumors In Children And Adults With Li-Fraumeni Syndrome (LFS) And Other Cancer Predisposition Syndromes
NCT02950987CI-TRIAL-00100306active not recruitingN/AClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Li-Fraumeni Syndrome | — | UNRESOLVED | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Whole Body MRI | Device | — | UNRESOLVED |
Design
Arms and outcomes
Arms (1)
- type
- EXPERIMENTAL
- label
- Whole Body MRI
- description
- * Magnetic resonance imaging will be performed on participants * Participants who are two young to tolerate the scans awake, can receive sedation/anesthesia
- interventionNames
- Device: Whole Body MRI
Primary outcomes (1)
- measure
- Return of pediatric and adult patients with Li Fraumeni Syndrome year-after-year for 4 annual scans.
- timeFrame
- 4 years
- description
- Successful return of patients for four annual scans will be recorded.
Secondary outcomes (3)
- measure
- Return of pediatric and adult patients with other cancer predisposition syndromes year-after-year for 4 annual scans.
- timeFrame
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
Inclusion Criteria: * 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." * 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 Exclusion Criteria: 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
References
Publications (0)
Data not yet available
No reference posted for this study.