Does Genetic Susceptibility for Bleeding Affect Quantitative Faecal Immunochemical Test (qFIT) Results?

NCT05329870 | Withdrawn

• 1 other identifier: AC21145
• Study Type: observational
• Target: N/A
• Locations: 1 country
• Sites: 1

Brief Summary

Quantitative faecal immunochemical testing (qFIT) is used to test for blood within faeces that cannot always be visible. The presence of blood in the stool has been shown to be a finding where there may be a problem within the large bowel. The test is able to give a numeric value to the blood in the stool and based on this result, further investigations can be planned, or if normal reassurance given. The test is not perfect and minor bowel problems such as haemorrhoids (piles) can give a raised result. However, we have also seen raised results in people who when investigated have a completely normal large bowel. A small degree of 'physiological' non-visible bleeding is likely a normal part of life and for the majority this does not lead to a raised qFIT result. It may be the case in people who have a raised qFIT but then go on to have a completely normal colonoscopy (telescope investigation of the large bowel) that there is a genetic predisposition that increases the amount of normal 'physiological blood' that they produce. This leads to the test being falsely positive and the person undergoing an unnecessary investigation. This study aims to use saliva to test for known genetic markers that effect blood clotting and can increase how much someone bleeds. By comparing the occurrence of these genetic markers in people with a raised qFIT and normal colonoscopy to those with a normal qFIT and normal colonoscopy, we can test this theory. Should this be the case it will help explain why the test can be raised in normal large bowel and could lead to different levels of positivity being used for different people.

Conditions

Colon Cancer; Colorectal Cancer

Outcome Measures

Primary Outcomes (1)

• Accumulation of SNPs related to bleeding in patients with a normal colonoscopy and a raised qFIT compared to those with a qFIT less than 10 µg Hb/g.

  SNP array performed on dna from saliva samples

  Saliva sample will be collected within 1 month of recruitment. Assessment will require all results from the study participants before analysis can be performed. Aimed to be within 6 months of sample collection completion

Study Arms (2)

Normal Colonoscopy and Normal qFIT

Normal colonoscopy and qFIT \<10 micrograms haemoglobin

Other: SNP array

Normal Colonoscopy and Raised qFIT

Normal colonoscopy and qFIT \>=10 micrograms haemoglobin

Other: SNP array

Interventions

SNP array OTHER

SNP arrays for known bleeding SNPs to compare genetics of patients with normal colonoscopy and normal qFIT vs raised qFIT

Normal Colonoscopy and Normal qFIT; Normal Colonoscopy and Raised qFIT

Eligibility Criteria

• Age: 16 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study would aim to enrol 150 participants. This would be in a 1:4 ratio, meaning 30 participants would have had a normal colonoscopy and a qFIT \>10 µg Hb/g and 120 participants would have a normal colonoscopy and a qFIT \<10 µg Hb/g.

You may qualify if:

• Patients who were symptomatic at the time of referral
• Returned at least one qFIT sample
• Underwent a complete colonoscopy, which did not identify any pathology
• Willing to provide a saliva sample for genetic analysis
• Are able to consent to the study

You may not qualify if:

• Age \< 18
• Previous colorectal cancer
• Ongoing colonic polyp surveillance
• Known inflammatory bowel disease
• Taking anticoagulant medication (Aspirin, clopidogrel, warfarin or NOAC)
• History of liver disease or known bleeding disorder
• Incomplete colonoscopy
• Unable to consent to the study

Sponsors & Collaborators

• University of Edinburgh: lead
• Royal College of Surgeons of Edinburgh: collaborator

Study Sites (1)

NHS Lothian

Edinburgh, United Kingdom

Location

Biospecimen

Retention: SAMPLES WITH DNA

DNA will be collected and stored in the IGC Unit

MeSH Terms

Conditions

Colonic Neoplasms; Colorectal Neoplasms

Condition Hierarchy (Ancestors)

Intestinal Neoplasms; Gastrointestinal Neoplasms; Digestive System Neoplasms; Neoplasms by Site; Neoplasms; Digestive System Diseases; Gastrointestinal Diseases; Colonic Diseases; Intestinal Diseases; Rectal Diseases

Study Officials

• Farhat Din, FRCSed

  University of Edinburgh

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: January 5, 2022
• First Posted: April 15, 2022
• Study Start: May 18, 2022
• Primary Completion: November 4, 2023
• Study Completion: November 4, 2023
• Last Updated: January 16, 2026

Record last verified: 2026-01

Locations

GB (1)