Exploring the Landscape of Somatic Mutations in Human Tissue

NCT06585800 | Enrolling By Invitation

• 1 other identifier: 248671
• Study Type: observational
• Target: 1,800
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Somatic Mutation

Outcome Measures

Primary Outcomes (1)

• 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.

  6.25 years

Secondary Outcomes (4)

• Number of Somatic Mutations

  6.25 years

• Spectrum of Mutational Signatures

  6.25 years

• Size of Clonal Populations

  6.25 years

• Relatedness of Clonal Populations

  6.25 years

Study Arms (3)

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.

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.

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.

Other: sample collection

Interventions

sample collection OTHER

blood and/or tissue collection

1.Undergoing surgery; 2.1. Undergoing Invasive Procedures (Endoscopy); 2.2. Undergoing Invasive Procedures (Biopsy)

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

• 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.

You may not qualify if:

• where consent has not been received

Sponsors & Collaborators

• The Wellcome Sanger Institute: lead

Study Sites (1)

Wellcome Sanger Institute

Cambridge, United Kingdom

Location

Biospecimen

Retention: SAMPLES WITH DNA

Collection of blood and tissue samples

MeSH Terms

Interventions

Specimen Handling

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques

Study Officials

• Mike Stratton

  Wellcome Sanger Institute

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 4, 2024
• First Posted: September 19, 2024
• Study Start: March 1, 2019
• Primary Completion: January 31, 2026
• Study Completion: January 31, 2026
• Last Updated: September 19, 2024

Record last verified: 2024-09

Locations

GB (1)