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Enrolling by Invitation

NCT Number: NCT06851052

SMS - Study of Somatic Mutations Using Genome Sequencing

Disease and tissue aging are thought to be influenced by genetic changes, or mutations, acquired throughout life. These mutations provide clues regarding the genetic damage that occurred through the lifetime of the patient, and include mutations caused by environmental factors such as ultraviolet light from sunlight or tobacco smoke affecting the skin or internal tissues, respectively. Other mutations may occur due to errors in copying the genome as cells divide. Improvements in technologies that read the genetic code have made it possible for all or selected parts of the genetic code of a human being to be "sequenced", allowing mutations (changes in the genetic code) to be detected.

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Key information

Conditions

Somatic Mutation

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Wellcome Sanger Institute

Cambridge, United Kingdom

About this study

In this research, samples of blood, skin biopsies, plucked hairs, urine, surplus tissue removed during future planned surgery, and archived samples removed in the past will be used. The order of DNA bases in the genetic code (sequencing) in the samples will help to understand how the number and type of cells with changes in their DNA is different in tissues depending on a person's age, their exposure to environmental agents, or other factors such as disease history or treatments such as radiotherapy.

Who can participate

Healthy volunteers accepted: Yes

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

Inclusion criteria

  • Controls: Healthy adults with capacity to consent
  • Patients: Adults with capacity to consent who have been highlighted by research nurse or clinician as potentially having genetic damage caused by environmental factors, such as UV light or tobacco smoke, or other factors, such as disease history or treatments, for example radiotherapy.

Exclusion criteria

  • Adults who lack capacity to consent.
  • Children.

Treatment and study plan

Sample collection

Other

Samples could include blood, skin biopsy, urine, plucked hair.

Seeking consent

Other

Sample Collection: Surgical

Other

Excess surgical tissue (diseased tissue or tissue being removed for a clinical reason).

Primary outcomes

  1. The study will measure the burden of somatic mutations in tissues and how this varies between controls and patients.

    Time frame: 10 years

    Robust statistical methods developed at the Wellcome Trust Sanger Institute will be used to analyse and interpret human genome data. This study will use bespoke computer programmes to determine the prevalence of rare mutations in normal tissue by competing the ratio of synonymous and nonsynonymous mutations for each gene analysed.

  2. The specific mutations in genes and their prevalence will be determined.

    Time frame: 10 years

    Robust statistical methods developed at the Wellcome Trust Sanger Institute will be used to analyse and interpret human genome data. This study will use bespoke computer programmes to determine the prevalence of rare mutations in normal tissue by competing the ratio of synonymous and nonsynonymous mutations for each gene analysed.

Sponsors and collaborators

Lead sponsor

The Wellcome Sanger Institute

Other

Collaborators

  • Cambridge University Hospitals NHS Foundation Trust
  • Hull University Teaching Hospitals NHS Trust

Registry information

Acronym: SMS

Important dates

Study start
2016
Primary completion
2028
Study completion
2028
First posted
Feb 28, 2025
Registry last updated
Jul 20, 2025

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.

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