Magnetic Resonance Imaging Screening in Li Fraumeni Syndrome

NCT01737255 | Completed

• 1 other identifier: CCR3802
• Study Type: observational
• Target: 88
• Locations: 1 country
• Sites: 1

Brief Summary

This study is aimed at exploring the use of whole body MRI for early cancer detection in TP53 mutation carriers and population controls, with the hypothesis that more cancers will be detected in the TP53 mutation carrier group. A secondary end-point will be the number of incidental findings detected and subsequent investigations required. A series of questionnaires will be used to assess the psychological impact of screening on both the study and control group.

Conditions

Li-Fraumeni Syndrome

Keywords

Li-Fraumeni Syndrome; Whole Body Magnetic Resonance Imaging; TP53; Psychological Impact

Outcome Measures

Primary Outcomes (1)

• Diagnosis of malignant disease

  Following MRI scan further investigations may be required to diagnose malignancy

  Within 12 months of MRI scan

Secondary Outcomes (3)

• Diagnosis of relevant non-malignant disease

  12 months following MRI scan

• Diagnosis of non-relevant disease, number and type of investigations required

  12 months following MRI

• Psychological impact of MRI screening

  12 months following MRI screening

Study Arms (2)

TP53 mutation carriers

Carriers of TP53 mutation not known to be low penetrance

Other: Whole body MRI; Other: Psychological questionnaires

Population controls

Population controls will be sex and aged matched (+/- 5 years) to the TP53 mutation carrier group, with no personal history of cancer and no family history of cancer diagnosed under 50 years

Other: Whole body MRI; Other: Psychological questionnaires

Interventions

Whole body MRI OTHER

Individuals will undergo whole body and brain MRI

Population controls; TP53 mutation carriers

Psychological questionnaires OTHER

All recruits will complete questionnaires at 6 time points to assess psychological impact

Population controls; TP53 mutation carriers

Eligibility Criteria

• Age: 18 Years - 60 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

The TP53 mutation carriers will be recruited from genetics clinics and through advertising. The population controls will be recruited through advertising

You may qualify if:

• Carrier of germline TP53 mutation which, in the view of the geneticist, is not known to be low penetrance OR non-related individual with no personal history of malignancy and no first degree relatives diagnosed with malignancy under the age of 50 years
• Please note, TP53 carrier cohort is complete and no longer open to recruitment
• Age between 18 and 60
• Able to give informed consent

You may not qualify if:

• Individual with low penetrance TP53 mutation
• Individual with TP53 variant of unknown significance.
• Previous malignancy diagnosed \< 5 years ago in TP53 carriers (except non-melanomatous skin cancer or cervical CIS) Previous history of malignancy in non-related controls (except non-melanomatous skin cancer or cervical CIS)
• Current symptoms suggestive of malignancy
• Contraindication to MRI (such as non-MR compatible metal implants) as specified by the standard MR safety checklist
• Claustrophobia
• ECOG performance status \>2

Sponsors & Collaborators

• Institute of Cancer Research, United Kingdom: lead
• Cancer Research UK: collaborator
• National Institute for Health Research, United Kingdom: collaborator

Study Sites (1)

Cancer Genetics Unit, Royal Marsden Hospital

Sutton, Surrey, SM2 5PT, United Kingdom

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

• Rosalind Eeles, PhD

  Institute of Cancer Research, Surrey, UK

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 27, 2012
• First Posted: November 29, 2012
• Study Start: October 1, 2012
• Primary Completion: September 1, 2016
• Study Completion: December 1, 2017
• Last Updated: March 31, 2022

Record last verified: 2022-03

Data Sharing

• IPD Sharing: Will share

Locations

GB (1)