SMS - Study of Somatic Mutations Using Genome Sequencing

NCT06851052 | Enrolling By Invitation

• 1 other identifier: 182435
• Study Type: observational
• Target: 600
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Somatic Mutation

Outcome Measures

Primary Outcomes (2)

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

  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.

  10 years

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

  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.

  10 years

Study Arms (2)

Controls

Healthy adults with capacity to consent these may be patient's relatives either recruited by the research nurse or clinician, or recruited via posters put up around the hospital requesting volunteers.

Other: sample collection; Other: Seeking 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.

Other: sample collection; Other: Seeking consent; Other: Sample Collection: Surgical

Interventions

sample collection OTHER

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

Controls; Patients

Seeking consent OTHER

Controls; Patients

Sample Collection: Surgical OTHER

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

Patients

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients who may have genetic damage caused by environmental factors, for example, a history of exposure to relevant carcinogens, such as, a high level of sunlight or tobacco. These will be identified by recruiting clinicians and research nurses in participating hospitals. Control participants will either be relatives of patients identified by a research nurse or clinician, or will be recruited via poster. The posters will be placed in public and staff areas in participating hospitals.

You may qualify if:

• 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.

You may not qualify if:

• Adults who lack capacity to consent.
• Children.

Sponsors & Collaborators

• The Wellcome Sanger Institute: lead
• Cambridge University Hospitals NHS Foundation Trust: collaborator
• Hull University Teaching Hospitals NHS Trust: collaborator

Study Sites (1)

Wellcome Sanger Institute

Cambridge, United Kingdom

Location

Biospecimen

Retention: SAMPLES WITH DNA

Archival tissue, such as formalin fixed paraffin embedded samples, previously collected from the donor for clinical purposes. Other materials that may be included: Extracted DNA/RNA samples, plucked hairs and DNA or cells extracted from plucked hairs, skin biopsies of up to 4mm in diameter, urine and cells obtained from urine, blood samples and cells obtained from blood samples, tissue removed at a future, clinically indicated surgical procedure surplus to diagnostic requirements and cell lines.

MeSH Terms

Interventions

Specimen Handling

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques

Study Officials

• Phil Jones, PhD

  Wellcome Sanger Institute

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: February 11, 2025
• First Posted: February 28, 2025
• Study Start: October 1, 2016
• Primary Completion (Estimated): June 14, 2028
• Study Completion (Estimated): July 14, 2028
• Last Updated: July 20, 2025

Record last verified: 2025-02

Locations

GB (1)