Skip to main content
OpenTrials
Enrolling by Invitation

NCT Number: NCT06585800

Exploring the Landscape of Somatic Mutations in Human Tissue

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.

Enrolling by Invitation

Interested in participating?

Request Info

Key information

Conditions

Somatic Mutation

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Wellcome Sanger Institute

Cambridge, United Kingdom

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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.

Exclusion criteria

  • where consent has not been received

Treatment and study plan

Sample collection

Other

blood and/or tissue collection

Primary outcomes

  1. 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.

Secondary outcomes

  1. Number of Somatic Mutations

    Time frame: 6.25 years

    Quantification of the total number of somatic mutations present in the tissue samples.

  2. Spectrum of Mutational Signatures

    Time frame: 6.25 years

    Analysis of the spectrum of mutational signatures, including:

    • Base Substitutions
    • Indels (Insertions and Deletions)
    • Genome Rearrangements
    • Copy Number Changes

  3. Size of Clonal Populations

    Time frame: 6.25 years

    Measurement of the size of clonal populations within the tissue samples.

  4. Relatedness of Clonal Populations

    Time frame: 6.25 years

    Analysis of the genetic relatedness of clonal populations within the tissue samples.

Sponsors and collaborators

Lead sponsor

The Wellcome Sanger Institute

Other

Registry information

Important dates

Study start
2019
Primary completion
2026
Study completion
2026
First posted
Sep 19, 2024
Registry last updated
Sep 19, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.