Skip to main content
OpenTrials
Completed

NCT Number: NCT01737255

Magnetic Resonance Imaging Screening in Li Fraumeni Syndrome

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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

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

Age range

18 year–60 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Cancer Genetics Unit, Royal Marsden Hospital

Sutton, Surrey, SM2 5PT, United Kingdom

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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

Exclusion criteria

  • 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

Treatment and study plan

Whole body MRI

Other

Individuals will undergo whole body and brain MRI

Psychological questionnaires

Other

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

Primary outcomes

  1. Diagnosis of malignant disease

    Time frame: Within 12 months of MRI scan

    Following MRI scan further investigations may be required to diagnose malignancy

Secondary outcomes

  1. Diagnosis of relevant non-malignant disease

    Time frame: 12 months following MRI scan

    Further investigations may be required following the MRI to characterise such findings.

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

    Time frame: 12 months following MRI

  3. Psychological impact of MRI screening

    Time frame: 12 months following MRI screening

    Psychological questionnaires to be completed at intervals up till 12 months post scan

Sponsors and collaborators

Lead sponsor

Institute of Cancer Research, United Kingdom

Other

Collaborators

  • Cancer Research UK
  • National Institute for Health Research, United Kingdom

Registry information

Official study title

Magnetic Resonance Imaging Screening In Li Fraumeni Syndrome: An Exploratory Whole Body MRI Study

Acronym: SIGNIFY

Important dates

Study start
2012
Primary completion
2016
Study completion
2017
First posted
Nov 29, 2012
Registry last updated
Mar 31, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.