SMS - Study of Somatic Mutations Using Genome Sequencing

NCT ID: NCT06851052

Last Updated: 2025-07-20

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ENROLLING_BY_INVITATION

Total Enrollment

600 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-10-01

Study Completion Date

2028-07-14

Brief Summary

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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

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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

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Somatic Mutation

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

OTHER

Study Groups

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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.

sample collection

Intervention Type OTHER

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

Seeking consent

Intervention Type OTHER

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.

sample collection

Intervention Type OTHER

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

Seeking consent

Intervention Type OTHER

Sample Collection: Surgical

Intervention Type OTHER

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

Interventions

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sample collection

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

Intervention Type OTHER

Seeking consent

Intervention Type OTHER

Sample Collection: Surgical

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

Intervention Type OTHER

Eligibility Criteria

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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.
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Cambridge University Hospitals NHS Foundation Trust

OTHER

Sponsor Role collaborator

Hull University Teaching Hospitals NHS Trust

OTHER_GOV

Sponsor Role collaborator

The Wellcome Sanger Institute

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Phil Jones, PhD

Role: PRINCIPAL_INVESTIGATOR

Wellcome Sanger Institute

Locations

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Wellcome Sanger Institute

Cambridge, , United Kingdom

Site Status

Countries

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United Kingdom

Other Identifiers

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182435

Identifier Type: -

Identifier Source: org_study_id

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