Somatic MutationSMSNCT06851052
SMS - Study of Somatic Mutations Using Genome Sequencing
An observational study of Somatic Mutation, run by The Wellcome Sanger Institute at 1 site in United Kingdom.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Somatic Mutation
- What is being tested?
- sample collection, Seeking consent and Sample Collection: Surgical
- How many people
- 600 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 1 Oct 2016to 14 Jul 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- Adults who lack capacity to consent.
- Children.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
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.
Read the 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
- Being tested
- sample collection, Seeking consent, Sample Collection: Surgical
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
sample collectionOther
Samples could include blood, skin biopsy, urine, plucked hair.
Seeking consentOther
Sample Collection: SurgicalOther
Excess surgical tissue (diseased tissue or tissue being removed for a clinical reason).
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: 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. Receives: Other: sample collection; Other: Seeking consent; Other: Sample Collection: Surgical |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Feb 2025
- Study start1 Oct 2016
- Primary completion14 Jun 2028 (estimated)
- Study completion14 Jul 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Somatic MutationStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Other
- Enrolment
- 600 participants (estimated)
Sponsor and investigators
- Lead sponsor
- The Wellcome Sanger Institute
- Sponsor type
- University, hospital or other
- Collaborators
- Cambridge University Hospitals NHS Foundation Trust, Hull University Teaching Hospitals NHS Trust
- Responsible party
- Sponsor
- Investigators
- Phil Jones, PhD, Principal investigator, Wellcome Sanger Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06851052
- Sponsor's protocol ID
- 182435
- Acronym
- SMS
- Status last verified
- Feb 2025
- First submitted
- 11 Feb 2025
- Last updated
- 20 Jul 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 Jul 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- SMS - Study of Somatic Mutations Using Genome Sequencing
- ClinicalTrials.gov ID
- NCT06851052
- Acronym / sponsor ID
- SMS / 182435
- Conditions
- Somatic Mutation
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 600 participants (estimated)
- Lead sponsor
- The Wellcome Sanger InstituteUniversity, hospital or other
- Collaborators
- Cambridge University Hospitals NHS Foundation Trust, Hull University Teaching Hospitals NHS Trust
- Study start
- 1 Oct 2016 (actual)
- Primary completion
- 14 Jun 2028 (estimated)
- Study completion
- 14 Jul 2028 (estimated)
- First posted
- 28 Feb 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Other
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Controls | – | Other: sample collection, Other: Seeking consentHealthy 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. |
| Patients | – | Other: sample collection, Other: Seeking consent, Other: Sample Collection: SurgicalAdults 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. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (2 listed)
- 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.
Key exclusion criteria (2 listed)
- Adults who lack capacity to consent.
- Children.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| sample collectionSamples could include blood, skin biopsy, urine, plucked hair. | Other | Controls, Patients |
| Seeking consent | Other | Controls, Patients |
| Sample Collection: SurgicalExcess surgical tissue (diseased tissue or tissue being removed for a clinical reason). | Other | Patients |
Primary outcome
The study will measure the burden of somatic mutations in tissues and how this varies between controls and patients.
Time frame: 10 years
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.
The specific mutations in genes and their prevalence will be determined.
Time frame: 10 years
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Jul 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Phil Jones, PhD principal investigator
Wellcome Sanger Institute
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Somatic Mutation, run by The Wellcome Sanger Institute at 1 site in United Kingdom.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 20 Jul 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
The study will measure the burden of somatic mutations in tissues and how this varies between controls and patients. (time frame: 10 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Jul 2025.