Screening With Whole Body MRI For Detection Of Primary Tumors In Children And Adults With Li-Fraumeni Syndrome (LFS) And Other Cancer Predisposition Syndromes

NCT02950987 | Active Not Recruiting DMC

• 1 other identifier: 11-200
• Study Type: interventional
• Target: 150
• Locations: 1 country
• Sites: 3

Brief 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.

Conditions

Li-Fraumeni Syndrome

Keywords

Li-Fraumeni Syndrome (LFS); Cancer Predisposition Syndromes; LFS

Outcome Measures

Primary Outcomes (1)

• 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.

  4 years

Secondary Outcomes (3)

• Return of pediatric and adult patients with other cancer predisposition syndromes year-after-year for 4 annual scans.

  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.

  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.

  3 years

Study Arms (1)

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

Device: Whole Body MRI

Interventions

Whole Body MRI DEVICE

Whole Body MRI

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Dana-Farber Cancer Institute: lead

Study Sites (3)

Dana Farber Cancer Institute

Boston, Massachusetts, 02115, United States

Location

Memorial Sloan-Kettering Cancer Center

New York, New York, 10065, United States

Location

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

MeSH Terms

Conditions

Li-Fraumeni Syndrome

Condition Hierarchy (Ancestors)

Neoplastic Syndromes, Hereditary; Neoplasms; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Allison O'Neill, MD

  Dana-Farber Cancer Institute

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SCREENING
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Instructor, Pediatric Hematology/Oncology

Study Record Dates

• First Submitted: October 11, 2016
• First Posted: November 1, 2016
• Study Start: March 1, 2012
• Primary Completion (Estimated): December 1, 2027
• Study Completion (Estimated): December 1, 2027
• Last Updated: January 7, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

US (3)