Colon CancerNCT05329870
Does Genetic Susceptibility for Bleeding Affect Quantitative Faecal Immunochemical Test (qFIT) Results?
An observational study of Colon Cancer and Colorectal Cancer, run by University of Edinburgh at 1 site in United Kingdom.
Trial 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. Read more about this study
- Who is it for?
- Ages 16 years and olderHealthy volunteers can take part
- Conditions the study is for
- Colon Cancer, Colorectal Cancer
- What is being tested?
- SNP array
- How many people
- 0 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 18 May 2022to 4 Nov 2023
- 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 16 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Does Genetic Susceptibility for Bleeding Affect Quantitative Faecal Immunochemical Test (qFIT) Results? - a Feasibility Study
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.
Read more
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.
Read the detailed description
Quantitative faecal immunochemical testing (qFIT) measures the presence of haemoglobin within faeces. It is an immunoassay based method, measuring the globin portion of human haemoglobin or its early degradation products. Diet does not impact the result and because globin is broken down by gastric enzymes, it is more specific to lower gastrointestinal (GI) bleeding than previously used guaiac based occult blood tests. qFIT is the test currently used by the Scottish and English National Bowel Screening Programmes and more recently has been included in NICE guideline DG30, for the investigation of patients with lower gastrointestinal (GI) symptoms who are in a low-risk population.
qFIT is being increasingly used in a manner, unsupported by evidence in some cases, in the investigation of all symptomatic patients to aid decision-making in referral to secondary care and for allocation of endoscopy resources in secondary care. qFIT is not a perfect test to rule out colorectal cancer, a meta-analysis within a symptomatic population estimated the sensitivity for detecting colorectal cancer to be 90% with a specificity of 87%. From our own studies of repeated qFIT (n=3000, unpublished), a large variance is seen between the results. Therefore to improve the utility of qFIT within this group it is likely additional factors will also need to be considered, such as an individual's genetic susceptibility for bleeding.
There are well known genetic variants resulting in coagulopathy conditions such as haemophilia and von Willebrand disease. However, it has been shown that the levels of coagulation associated proteins vary within the population and this variation is linked with genetics. Multiple genes have been implicated in coagulation, and within them hundreds of singe nucleotide polymorphisms (SNPs). Reduced levels of circulating coagulation proteins may explain false positive cases seen with qFIT.
This study aims to add further knowledge to the utility of qFIT when investigating patients with lower gastrointestinal symptoms. There are a significant proportion of people who have a raised qFIT and normal colonoscopy (gold standard investigation). In our data approximately 10% of those with a completely normal colonoscopy had a raised qFIT defined as >10 µg Hb/g. It is possible that these patients have a genetic susceptibility to bleeding and therefore have higher levels of faecal haemoglobin without any pathology. There are known genetic markers for bleeding tendency. By comparing these genetic traits in patients with a normal colonoscopy but a qFIT >10 µg Hb/g against <10 µg Hb/g the potential effects of these genes on qFIT results may be evaluated.
- Conditions
- Colon Cancer, Colorectal Cancer
- Being tested
- SNP array
- Medical subject headings
- Colonic Neoplasms, Colorectal Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
SNP arrayOther
SNP arrays for known bleeding SNPs to compare genetics of patients with normal colonoscopy and normal qFIT vs raised qFIT
| Study group | Role | What they receive |
|---|---|---|
| Normal Colonoscopy and Normal qFIT | Normal colonoscopy and qFIT <10 micrograms haemoglobin Receives: Other: SNP array | |
| Normal Colonoscopy and Raised qFIT | Normal colonoscopy and qFIT >=10 micrograms haemoglobin Receives: Other: SNP array |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 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
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Apr 2022
- Study start18 May 2022 (estimated)
- Primary completion4 Nov 2023 (estimated)
- Study completion4 Nov 2023 (estimated)
Why it stopped: never started due to funding/staffing issues
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Colon CancerStudies 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
- Retrospective
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Edinburgh
- Sponsor type
- University, hospital or other
- Collaborators
- Royal College of Surgeons of Edinburgh
- Responsible party
- Sponsor
- Investigators
- Farhat Din, FRCSed, Principal investigator, University of Edinburgh
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05329870
- Sponsor's protocol ID
- AC21145
- Status last verified
- Jan 2026
- First submitted
- 5 Jan 2022
- Last updated
- 16 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: Pseudo-anonymised genetic profiles may be available with patient consent
Study at a glance
From the registry record, last updated by the sponsor on 16 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Does Genetic Susceptibility for Bleeding Affect Quantitative Faecal Immunochemical Test (qFIT) Results? - a Feasibility Study
- ClinicalTrials.gov ID
- NCT05329870
- Acronym / sponsor ID
- AC21145
- Conditions
- Colon Cancer, Colorectal Cancer
- Study type
- Observational
- Recruitment status
- WithdrawnReason stopped: never started due to funding/staffing issues
- Enrolment
- 0 participants (actual)
- Lead sponsor
- University of EdinburghUniversity, hospital or other
- Collaborators
- Royal College of Surgeons of Edinburgh
- Study start
- 18 May 2022 (estimated)
- Primary completion
- 4 Nov 2023 (estimated)
- Study completion
- 4 Nov 2023 (estimated)
- First posted
- 15 Apr 2022 (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.
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.
Detailed description
Quantitative faecal immunochemical testing (qFIT) measures the presence of haemoglobin within faeces. It is an immunoassay based method, measuring the globin portion of human haemoglobin or its early degradation products. Diet does not impact the result and because globin is broken down by gastric enzymes, it is more specific to lower gastrointestinal (GI) bleeding than previously used guaiac based occult blood tests. qFIT is the test currently used by the Scottish and English National Bowel Screening Programmes and more recently has been included in NICE guideline DG30, for the investigation of patients with lower gastrointestinal (GI) symptoms who are in a low-risk population.
qFIT is being increasingly used in a manner, unsupported by evidence in some cases, in the investigation of all symptomatic patients to aid decision-making in referral to secondary care and for allocation of endoscopy resources in secondary care. qFIT is not a perfect test to rule out colorectal cancer, a meta-analysis within a symptomatic population estimated the sensitivity for detecting colorectal cancer to be 90% with a specificity of 87%. From our own studies of repeated qFIT (n=3000, unpublished), a large variance is seen between the results. Therefore to improve the utility of qFIT within this group it is likely additional factors will also need to be considered, such as an individual's genetic susceptibility for bleeding.
There are well known genetic variants resulting in coagulopathy conditions such as haemophilia and von Willebrand disease. However, it has been shown that the levels of coagulation associated proteins vary within the population and this variation is linked with genetics. Multiple genes have been implicated in coagulation, and within them hundreds of singe nucleotide polymorphisms (SNPs). Reduced levels of circulating coagulation proteins may explain false positive cases seen with qFIT.
This study aims to add further knowledge to the utility of qFIT when investigating patients with lower gastrointestinal symptoms. There are a significant proportion of people who have a raised qFIT and normal colonoscopy (gold standard investigation). In our data approximately 10% of those with a completely normal colonoscopy had a raised qFIT defined as >10 µg Hb/g. It is possible that these patients have a genetic susceptibility to bleeding and therefore have higher levels of faecal haemoglobin without any pathology. There are known genetic markers for bleeding tendency. By comparing these genetic traits in patients with a normal colonoscopy but a qFIT >10 µg Hb/g against <10 µg Hb/g the potential effects of these genes on qFIT results may be evaluated.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Normal Colonoscopy and Normal qFIT | – | Other: SNP arrayNormal colonoscopy and qFIT <10 micrograms haemoglobin |
| Normal Colonoscopy and Raised qFIT | – | Other: SNP arrayNormal colonoscopy and qFIT >=10 micrograms haemoglobin |
Who may qualify
- Ages
- 16 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (8 listed)
- Age < 18
- Previous colorectal cancer
- Ongoing colonic polyp surveillance
- Known inflammatory bowel disease
- Taking anticoagulant medication (Aspirin, clopidogrel, warfarin or NOAC)
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 |
|---|---|---|
| SNP arraySNP arrays for known bleeding SNPs to compare genetics of patients with normal colonoscopy and normal qFIT vs raised qFIT | Other | Normal Colonoscopy and Normal qFIT, Normal Colonoscopy and Raised qFIT |
Primary outcome
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.
Time frame: 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
SNP array performed on dna from saliva samples
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Jan 2026.
- Individual participant dataSharing planned: Undecided. Pseudo-anonymised genetic profiles may be available with patient consent
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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.
Farhat Din, FRCSed principal investigator
University of Edinburgh
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 Colon Cancer and Colorectal Cancer, run by University of Edinburgh 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 8 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: withdrawn, as of the sponsor's last update on 16 Jan 2026. 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?
The study was withdrawn before enrolling participants, so there are no results.
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?
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. (time frame: 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). 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 16 Jan 2026.