SMS - Study of Somatic Mutations Using Genome Sequencing
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: sample collection, Seeking consent, Sample Collection: Surgical.
- Who it may be relevant to
- Registry conditions: Somatic Mutation. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United Kingdom
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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.
Interventions
- 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).
Primary outcome measures
- The study will measure the burden of somatic mutations in tissues and how this varies between controls and patients. [Time frame: 10 years]
- The specific mutations in genes and their prevalence will be determined. [Time frame: 10 years]
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Case-control
Study locations
United Kingdom · 1 center
- Wellcome Sanger Institute — Cambridge
Identifiers
NCT: NCT06851052 · 182435