Somatic MutationNCT06585800
Exploring the Landscape of Somatic Mutations in Human Tissue
An observational study of Somatic Mutation, run by The Wellcome Sanger Institute at 1 site in United Kingdom.
Trial summary
Every cell in the human body contains a blueprint of the body called the genome. Throughout life, the genome can become damaged resulting in errors (mutations) that can change the way cells behave and may result in diseases such as cancer. 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
- How many people
- 1,800 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 1 Mar 2019to 31 Jan 2026
- Phase
- Observational
- Are there results?
- None posted in the registry
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: 1. Normal (healthy) tissue - across ages 18 - 80+ years 2. Normal (healthy) tissue, diseased tissue and neoplastic tissue in patients with conditions associated with known disease processes, including syndromes caused by DNA repair defects 3. Normal (healthy) and neoplastic tissue in patients previously treated with treatments known to cause somatic mutations, e.g. chemotherapy. Clinical collaborators will identify and recruit prospective research participants into the study.
Who may be able to join
- Individuals undergoing surgery
- Individuals undergoing invasive procedures, e.g.
- Endoscopy (oesophagogastroduodenoscopy, small bowel enteroscopy, colonoscopy, sigmoidoscopy,proctoscopy) for suspected gastrointestinal disease, e.g. coeliac disease or for surveillance of known conditions/diseases.
- Tissue biopsy - of solid organs
- Prospective sampling will be carried out with the research participants\' consent.
Who cannot join
- where consent has not been received
Trial locations and contacts
1 site in 1 country.
About this study
Every cell in the human body contains a blueprint of the body called the genome. Throughout life, the genome can become damaged resulting in errors (mutations) that can change the way cells behave and may result in diseases such as cancer. Examining the mutations found the genome of both normal (non-cancerous) and diseased cells can give a valuable insight into the very earliest stages of cancer development.
Comparing the number and type of mutations in different normal tissues is revealing new insights, helping us to better understand more about why cancer develops.
Read the detailed description
The investigators are seeking to characterise somatic mutations found in normal human tissue, as well as diseased tissue. These experiments have shown that a number of mutational processes previously observed in cancer cells, may also be present in normal tissues. By further exploring normal tissue samples from across the body, the investigators will be able to better understand why certain organs are more susceptible to mutations and what underlies the mutational processes active in many different tissue types.
- Conditions
- Somatic Mutation
- Being tested
- sample collection
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
sample collectionOther
blood and/or tissue collection
| Study group | Role | What they receive |
|---|---|---|
| 1.Undergoing surgery | For participants undergoing surgery, research tissue specimens will be sampled from resected tissue - no additional solid tissue research samples will be removed from patients undergoing surgery. Samples taken from surgery will be either from the margins of the resected specimen, or the specimen itself. However this will be done only with agreement with the clinical team and the histopathologist to ensure that clinical pathology is not affected. Receives: Other: sample collection | |
| 2.1. Undergoing Invasive Procedures (Endoscopy) | Endoscopy (oesophagogastroduodenoscopy, small bowel enteroscopy, colonoscopy, sigmoidoscopy, proctoscopy) for suspected gastrointestinal disease e.g. coeliac disease or for surveillance of known conditions/ diseases. For participants undergoing endoscopy as part of their routine clinical care, additional tissue biopsies will be taken for the purpose of this study only in cases where it is safe to do so. Receives: Other: sample collection | |
| 2.2. Undergoing Invasive Procedures (Biopsy) | Tissue Biopsies of solid organs. For participants undergoing tissue biopsy as part of their routine clinical care, additional tissue biopsies will be taken for the purpose of this study only in cases where it is safe to do so. For those undergoing high risk biopsies, e.g. liver biopsies, samples for research will only be taken from clinical specimens, i.e. no additional specimens will be taken solely for the purpose of research. Receives: Other: sample collection |
What is being measured
The primary outcome is the main question the study is designed to answer.
Comparison of somatic mutation burden
Identify and quantify variations that may contribute to disease development and progression between samples from the same donor and different donors, encompassing both healthy individuals and those with diseases.
Measured: 6.25 years
Secondary outcomes (4)
Number of Somatic Mutations
Quantification of the total number of somatic mutations present in the tissue samples.
Measured: 6.25 years
Spectrum of Mutational Signatures
Analysis of the spectrum of mutational signatures, including:
- Base Substitutions
- Indels (Insertions and Deletions)
- Genome Rearrangements
- Copy Number Changes
Measured: 6.25 years
Size of Clonal Populations
Measurement of the size of clonal populations within the tissue samples.
Measured: 6.25 years
Relatedness of Clonal Populations
Analysis of the genetic relatedness of clonal populations within the tissue samples.
Measured: 6.25 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Sep 2024
- Study start1 Mar 2019
- Primary completion31 Jan 2026 (estimated)
- Study completion31 Jan 2026 (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
- Cohort
- Time perspective
- Other
- Enrolment
- 1,800 participants (estimated)
Sponsor and investigators
- Lead sponsor
- The Wellcome Sanger Institute
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Mike Stratton, Principal investigator, Wellcome Sanger Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06585800
- Sponsor's protocol ID
- 248671
- Status last verified
- Sep 2024
- First submitted
- 4 Jul 2024
- Last updated
- 19 Sep 2024
- 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 19 Sep 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Exploring the Landscape of Somatic Mutations in Human Tissue
- ClinicalTrials.gov ID
- NCT06585800
- Acronym / sponsor ID
- 248671
- Conditions
- Somatic Mutation
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 1,800 participants (estimated)
- Lead sponsor
- The Wellcome Sanger InstituteUniversity, hospital or other
- Study start
- 1 Mar 2019 (actual)
- Primary completion
- 31 Jan 2026 (estimated)
- Study completion
- 31 Jan 2026 (estimated)
- First posted
- 19 Sep 2024 (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.
Every cell in the human body contains a blueprint of the body called the genome. Throughout life, the genome can become damaged resulting in errors (mutations) that can change the way cells behave and may result in diseases such as cancer. Examining the mutations found the genome of both normal (non-cancerous) and diseased cells can give a valuable insight into the very earliest stages of cancer development.
Comparing the number and type of mutations in different normal tissues is revealing new insights, helping us to better understand more about why cancer develops.
Detailed description
The investigators are seeking to characterise somatic mutations found in normal human tissue, as well as diseased tissue. These experiments have shown that a number of mutational processes previously observed in cancer cells, may also be present in normal tissues. By further exploring normal tissue samples from across the body, the investigators will be able to better understand why certain organs are more susceptible to mutations and what underlies the mutational processes active in many different tissue types.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| 1.Undergoing surgery | – | Other: sample collectionFor participants undergoing surgery, research tissue specimens will be sampled from resected tissue - no additional solid tissue research samples will be removed from patients undergoing surgery. Samples taken from surgery will be either from the margins of the resected specimen, or the specimen itself. However this will be done only with agreement with the clinical team and the histopathologist to ensure that clinical pathology is not affected. |
| 2.1. Undergoing Invasive Procedures (Endoscopy) | – | Other: sample collectionEndoscopy (oesophagogastroduodenoscopy, small bowel enteroscopy, colonoscopy, sigmoidoscopy, proctoscopy) for suspected gastrointestinal disease e.g. coeliac disease or for surveillance of known conditions/ diseases. For participants undergoing endoscopy as part of their routine clinical care, additional tissue biopsies will be taken for the purpose of this study only in cases where it is safe to do so. |
| 2.2. Undergoing Invasive Procedures (Biopsy) | – | Other: sample collectionTissue Biopsies of solid organs. For participants undergoing tissue biopsy as part of their routine clinical care, additional tissue biopsies will be taken for the purpose of this study only in cases where it is safe to do so. For those undergoing high risk biopsies, e.g. liver biopsies, samples for research will only be taken from clinical specimens, i.e. no additional specimens will be taken solely for the purpose of research. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- 1. Normal (healthy) tissue - across ages 18 - 80+ years 2. Normal (healthy) tissue, diseased tissue and neoplastic tissue in patients with conditions associated with known disease processes, including syndromes caused by DNA repair defects 3. Normal (healthy) and neoplastic tissue in patients previously treated with treatments known to cause somatic mutations, e.g. chemotherapy. Clinical collaborators will identify and recruit prospective research participants into the study.
Key inclusion criteria (5 listed)
- Individuals undergoing surgery
- Individuals undergoing invasive procedures, e.g.
- Endoscopy (oesophagogastroduodenoscopy, small bowel enteroscopy, colonoscopy, sigmoidoscopy,proctoscopy) for suspected gastrointestinal disease, e.g. coeliac disease or for surveillance of known conditions/diseases.
- Tissue biopsy - of solid organs
- Prospective sampling will be carried out with the research participants\' consent.
Key exclusion criteria (1 listed)
- where consent has not been received
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 collectionblood and/or tissue collection | Other | 1.Undergoing surgery, 2.1. Undergoing Invasive Procedures (Endoscopy), 2.2. Undergoing Invasive Procedures (Biopsy) |
Primary outcome
Comparison of somatic mutation burden
Time frame: 6.25 years
Identify and quantify variations that may contribute to disease development and progression between samples from the same donor and different donors, encompassing both healthy individuals and those with diseases.
4 secondary outcomes
Number of Somatic Mutations
Time frame: 6.25 years
Spectrum of Mutational Signatures
Time frame: 6.25 years
Size of Clonal Populations
Time frame: 6.25 years
Relatedness of Clonal Populations
Time frame: 6.25 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Sep 2024.
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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. This study is not recruiting at the moment.
Mike Stratton 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 5 inclusion and 1 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: status not confirmed, as of the sponsor's last update on 19 Sep 2024. 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?
Results are not available in the source record.
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?
Comparison of somatic mutation burden (time frame: 6.25 years). 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 19 Sep 2024.