NCT06851052

SMS - Study of Somatic Mutations Using Genome Sequencing

• Status: Enrolling By Invitation
• Phase: —
• Study type: Observational
• Enrollment: 600 (estimated)
• Sponsor: The Wellcome Sanger Institute · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

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.

Detailed description

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.

Conditions

• Somatic Mutation

Interventions

Type	Name	Description
OTHER	sample collection	Samples could include blood, skin biopsy, urine, plucked hair.
OTHER	Seeking consent
OTHER	Sample Collection: Surgical	Excess surgical tissue (diseased tissue or tissue being removed for a clinical reason).

Timeline

• Start date: 2016-10-01
• Primary completion: 2028-06-14
• Completion: 2028-07-14
• First posted: 2025-02-28
• Last updated: 2025-07-20

Locations

1 site across 1 country: United Kingdom