Screening With Whole Body MRI For Detection Of Primary Tumors In Children And Adults With Li-Frau… (NCT02950987) | Clinical Trial Compass
Active — Not RecruitingNot Applicable
Screening With Whole Body MRI For Detection Of Primary Tumors In Children And Adults With Li-Fraumeni Syndrome (LFS) And Other Cancer Predisposition Syndromes
United States150 participantsStarted 2012-03
Plain-language 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.
Who can participate
SexALL
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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 chromoso…
What they're measuring
1
Return of pediatric and adult patients with Li Fraumeni Syndrome year-after-year for 4 annual scans.