Somatic Mutation in Chronic Liver Disease

NCT06656767 | Enrolling By Invitation

• 1 other identifier: 346024
• Study Type: observational
• Target: 250
• Locations: 1 country
• Sites: 1

Brief Summary

Deaths from chronic liver disease are rising in the UK and around the world. The leading causes are alcohol-related liver disease, metabolic-dysfunction associated steatotic liver disease (MASLD, formerly known as 'non-alcoholic fatty liver disease') and viral hepatitis. Chronic liver disease puts people at significantly increased risk of liver cancer, which in the UK has a 5 year survival of under 15%. Little is understood about how liver cells acquire genetic changes, called somatic mutations, as they progress from healthy cells, to disease, to cancer development. This study aims to investigate these somatic mutations across different causes of chronic liver disease, and different stages of liver disease. The investigators hope this will help us to understand how different insults to the liver put the liver cells under different pressures, resulting in varying genetic changes. By understanding these changes specific to disease aetiology and stage, novel genetic targets may be identified which assist to focus research in identifying specific prognostic, diagnostic and therapeutic tools in chronic liver disease, and improve outcomes for patients. Tissue, surplus to clinical requirement, from patients were undergoing liver biopsy, liver resection or liver transplantation (tissue sampling from explanted liver) collected by collaborators at University of Texas Southwestern will undergo genomic sequencing at the Wellcome Sanger Institute.

Conditions

Chronic Liver Disease; Somatic Mutation

Keywords

Somatic mutations liver

Outcome Measures

Primary Outcomes (1)

• Somatic mutations in chronic liver disease

  Metrics evaluated include the number of somatic mutations, the spectrum of mutational signatures (encompassing base substitutions, indels, genome rearrangements, and copy number changes), and the size and relatedness of clonal populations within liver tissue samples. These collective analysis of these metrics will aim to identify and quantify variations that may contribute to disease development and progression.

  2 years

Study Arms (1)

Chronic Liver Disease

A comprehensive atlas of somatic mutation present in chronic liver disease, spanning disease aetiologies and stages.

Other: No intervention

Interventions

No intervention OTHER

This study utilises pre-collected samples only.

Chronic Liver Disease

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants with chronic liver disease

You may qualify if:

• Pre-collected cohorts of liver tissue collected from adults (male and female) with consent and ethical approval for use in research.

You may not qualify if:

• Anything outside of the above including samples other than liver tissue, samples where there is no consent or ethical approval for use in research and/or samples from children.

Sponsors & Collaborators

• The Wellcome Sanger Institute: lead

Study Sites (1)

Wellcome Sanger Institute

Cambridge, United Kingdom

Location

Biospecimen

Retention: SAMPLES WITH DNA

Liver tissue

Study Officials

• Peter Campbell

  Wellcome Sanger Institute

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: October 16, 2024
• First Posted: October 24, 2024
• Study Start: July 7, 2024
• Primary Completion (Estimated): August 1, 2026
• Study Completion (Estimated): August 1, 2026
• Last Updated: October 24, 2024

Record last verified: 2024-07

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1)