Clinical trial NCT06851052: SMS - Study of Somatic Mutations Using Genome Sequencing
Official title: SMS - Study of Somatic Mutations Using Genome Sequencing
Study type: OBSERVATIONAL
Overall status: ENROLLING_BY_INVITATION
Conditions: Somatic Mutation
Lead sponsor: The Wellcome Sanger Institute
Sponsor class: OTHER
Collaborators: name: Cambridge University Hospitals NHS Foundation Trust
name: Hull University Teaching Hospitals NHS Trust
First posted: 2025-02-28
Enrollment: 600
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: OTHER
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.

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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: The study will measure the burden of somatic mutations in tissues and how this varies between controls and patients.
timeFrame: 10 years
measure: The specific mutations in genes and their prevalence will be determined.
timeFrame: 10 years
Secondary outcomes:
Other outcomes:
Locations:
city: Cambridge
country: United Kingdom
facility: Wellcome Sanger Institute
Study officials:
affiliation: Wellcome Sanger Institute
name: Phil Jones, PhD
role: PRINCIPAL_INVESTIGATOR
References: