Irritable Bowel Syndrome (IBS)GenMalCarbNCT05795049
Genetic Carbohydrate Maldigestion as a Model to Study Food Hypersensitivity
An observational study of Irritable Bowel Syndrome (IBS) and Sucrase Isomaltase Deficiency, run by Nottingham University Hospitals NHS Trust at 1 site in United Kingdom.
Trial summary
Irritable bowel syndrome (IBS) affects one in seven people with gastrointestinal (GI) symptoms. IBS strongly impacts quality of life, is a leading cause of work absenteeism, and consumes 0.5% of the healthcare annual budget. Read more about this study
- Who is it for?
- Ages 5 to 70 yearsHealthy volunteers can take part
- Conditions the study is for
- Irritable Bowel Syndrome (IBS), Sucrase Isomaltase Deficiency
- What is being tested?
- Stool and saliva sample collection and Questionnaire completion
- How many people
- 2,000 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 23 Jul 2024to 31 Mar 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 5 to 70 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Multicentre study. IBS patients identified through secondary and tertiary care gastroenterological clinics. Asymptomatic adult controls recruited at the same site as respective patients or, for instance, from transfusion clinics, blood donor centres, bowel cancer screening as long as data on the absence of symptoms is documented.
Who may be able to join
- Patients age between 5 and 70 years of age.
- Patients with IBS-D or IBS-M as defined by the Rome III criteria.
- Previous negative endoscopy with biopsies excluding IBD or microscopic colitis in patients above 50 years old
- Negative relevant additional screening or consultation whenever appropriate
- Ability to conform to the study protocol
- Between 5 and 70 years of age
- Absence of Rome III IBS criteria
Who cannot join
- Patients with IBS-C or IBS-U according to Rome III criteria
- Patients with any condition which, in the opinion of the investigator, makes the patient unsuitable for participation in the study.
- Patients on opioids
- Patients with concurrent organic gastrointestinal disease (inflammatory bowel disease, celiac disease, cancer), or a major disease such as diabetes, uncontrolled thyroid disease
- Patients with a history of bowel surgery (not appendectomy or cholecystectomy)
- Concurrent major confounding condition, e.g. alcohol or substance abuse in the last 2 years (clinician's judgement).
Show all 10Show fewer
- Blood relatives of the participating IBS patient are not allowed to participate.
- Person with any condition which, in the opinion of the investigator, makes them unsuitable for participation in the study.
- Person presenting with a functional or organic GI disorder.
- Person presenting with underlying disease that may involve the GI tract (e.g. Parkinson's disease) or be associated with GI symptoms (e.g. anorexia nervosa, major depression).
Trial locations and contacts
1 site in 1 country.
United Kingdom1 site
Nottingham University Hospitals NHS Trust
Nottingham, NG7 2UH
About this study
Official title: Genetic Carbohydrate Maldigestion as a Model to Study Food Hypersensitivity Mechanism and Guide Personalised Treatment Using a Non-invasive Multiparametric Test (Work Package 1)
Irritable bowel syndrome (IBS) affects one in seven people with gastrointestinal (GI) symptoms. IBS strongly impacts quality of life, is a leading cause of work absenteeism, and consumes 0.5% of the healthcare annual budget. It manifests in women more than men with symptoms including abdominal pain, bloating, constipation (IBS-C), diarrhoea (IBS-D), and mixed presentations (IBS-M) (1). The development of therapeutic options is hampered by the poor understanding of the underlying cause of symptoms.
Many patients find that certain foods (particularly carbohydrates) trigger their symptoms, and avoiding such foods has been shown effective in IBS, like in the low-FODMAP (fermentable oligo-, di-, mono-saccharides and polyols) exclusion diet.
This has suggested that the food-symptom relation may involve malabsorption of carbohydrates due to inefficient digestion. However only a percentage of patients respond to this diet. Recently it has been reported that a subset of IBS carries hypomorphic (defective) gene variant of the sucrase isomaltase (SI), the enzyme that normally digests carbohydrates, sucrose and starch. This carbohydrate maldigestion (the breakdown of complex carbohydrates by a person's small bowel enzymes) is characterized by diarrhoea, abdominal pain and bloating, which are also features of IBS. This possibly occurs via accumulation of undigested carbohydrates in the large bowel, where they cause symptoms due to gas production following bacterial fermentation. Similar mechanisms may be acting at the level of other enzymes involved in the digestion, breakdown and absorption of carbohydrates (carb digestion genes -CDGs). Aim of the study is to study the prevalence of this genetic alteration in a large number of IBS patients as compared to asymptomatic controls.
- Being tested
- Stool and saliva sample collection, Questionnaire completion
- Keywords
- nutrigenetics, carbohydrates maldigestion
- Medical subject headings
- Irritable Bowel Syndrome, Sucrase-isomaltase deficiency, congenital
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Stool and saliva sample collectionOther
Stool and saliva samples collection
Questionnaire completionOther
Questionnaire on;
- demographic, ethnicity, IBS subtype, post-infection onset, previous surgeries
- IBS severity score for adults
- Hospital Anxiety and Depression scores for adults
- Somatization score for adults
- Total glucose and fructose and excess fructose, lactose, sorbitol, mannitol, oligosaccharides (Fructans and GOS) as measured by CNAQ questionnaire for adults and children
- Quality of Life as measured by the PedsQL™ GI Symptoms Module
- GI symptoms as measured by the PedsQL™ GI Symptoms Module
- Anxiety, Depression as measured by the Pediatric PROMIS®
| Study group | Role | What they receive |
|---|---|---|
| IBS Patient | IBS patient with diarrhoea or alternating bowel habit Receives: Other: Stool and saliva sample collection; Other: Questionnaire completion | |
| Healthy subject | Participants without IBS Receives: Other: Stool and saliva sample collection; Other: Questionnaire completion |
What is being measured
The primary outcome is the main question the study is designed to answer.
number of IBS-D and IBS-M with of SI and CDG hypomorphic variants as compared to asymptomatic controls
the prevalence of SI and CDG hypomorphic variants in IBS-D and IBS-M patients across countries and ethnicities, compared to asymptomatic controls
Measured: baseline
Secondary outcomes (14)
Difference in age between patients carriers and non-carriers of defective (hypomorphic) gene
Evaluate whether the below parameters differs between patients carriers and non-carriers of defective (hypomorphic) gene:
- age in years
Measured: baseline
Difference in gender between patients carriers and non-carriers of defective (hypomorphic) gene
Evaluate whether the below parameters differs between patients carriers and non-carriers of defective (hypomorphic) gene:
- gender
Measured: baseline
Difference in ethnicity between patients carriers and non-carriers of defective (hypomorphic) gene
Evaluate whether the below parameters differs between patients carriers and non-carriers of defective (hypomorphic) gene:
- ethnicity
Measured: baseline
Difference in IBS subtype between patients carriers and non-carriers of defective (hypomorphic) gene
Evaluate whether the below parameters differs between patients carriers and non-carriers of defective (hypomorphic) gene:
- number of patients with IBS with diarrhoea (IBS-D) and with mixed bowel habit (IBS-M)
Measured: baseline
Difference in post-infectious onset between patients carriers and non-carriers of defective (hypomorphic) gene
Evaluate whether the below parameters differs between patients carriers and non-carriers of defective (hypomorphic) gene:
- number of patients with post-infectious onset
Measured: baseline
Difference in number of previous abdominal surgery between patients carriers and non-carriers of defective (hypomorphic) gene
Evaluate whether the below parameters differs between patients carriers and non-carriers of defective (hypomorphic) gene:
- number of patients with IBS with previous abdominal surgery
Measured: baseline
Difference in symptoms presentations between patients carriers and non-carriers of defective (hypomorphic) gene
Evaluate whether the below parameters differs between patients carriers and non-carriers of defective (hypomorphic) gene:
- IBS symptoms severity score for adults. This score range between 0 and 500 and a change of at least 50 is considered a clinically relevant change.
Measured: baseline
Difference in anxiety and depression between patients carriers and non-carriers of defective (hypomorphic) gene
Evaluate whether the below parameters differs between patients carriers and non-carriers of defective (hypomorphic) gene:
- Hospital Anxiety and Depression score for adults. A score up to 7 for anxiety and or depression is considered Normal; between 8-10 Borderline abnormal (borderline case) and between 11-21 = Abnormal (case)
Measured: baseline
Difference in somatisation between patients carriers and non-carriers of defective (hypomorphic) gene
Evaluate whether the below parameters differs between patients carriers and non-carriers of defective (hypomorphic) gene:
- Somatization score for adults. a score of 5, 10, and 15 represent cutpoints for low, medium, and high somatic symptom severity, respectively.
Measured: baseline
Difference in habitual intake of sugars between patients carriers and non-carriers of defective (hypomorphic) gene
Evaluate whether the below parameters differs between patients carriers and non-carriers of defective (hypomorphic) gene:
- Total glucose and fructose and excess fructose, lactose, sorbitol, mannitol, oligosaccharides (Fructans and GOS) as measured by CNAQ questionnaire for adults and children
Measured: baseline
Difference in quality of life between patients carriers and non-carriers of defective (hypomorphic) gene
Evaluate whether the below parameters differs between patients carriers and non-carriers of defective (hypomorphic) gene:
- Quality of Life as measured by the Pediatric Quality of Life Inventory™ Gastrointestinal Symptoms (PedsQL™ GI Symptoms) Scale. The high.er the PedsQL score, the better the quality of life
Measured: baseline
Difference in symptoms between patients carriers and non-carriers of defective (hypomorphic) gene
Evaluate whether the below parameters differs between patients carriers and non-carriers of defective (hypomorphic) gene:
- GI symptoms using those reported in the Pediatric Quality of Life Inventory™ Gastrointestinal Symptoms Module
Measured: baseline
Difference in anxiety and depression between paediatric patients carriers and non-carriers of defective (hypomorphic) gene
Evaluate whether the below parameters differs between patients carriers and non-carriers of defective (hypomorphic) gene:
- Anxiety, Depression as measured by the Pediatric Patient-Reported Outcomes Measurement Information System (PROMIS®). This use a T-score metric in which 50 is the mean of a relevant reference population and 10 is the standard deviation (SD) of that population.
On the T-score metric:
A score of 40 is one SD lower than the mean of the reference population. A score of 60 is one SD higher than the mean of the reference population.
Measured: baseline
Difference in in vitro SI enzyme activity in human cells with defective gene as compare with those with normal gene
Difference in the intensity of the SI protein bands of immunoprecipitations of monoclonal anti-SI antibodies that recognize different conformations of the SI protein
Measured: baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Apr 2023
- Study start23 Jul 2024
- Primary completion30 Sep 2025
- Study completion31 Mar 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (17)Papers the sponsor has linked to this study.
- Other trials for Irritable Bowel Syndrome (IBS)Studies 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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 2,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Nottingham University Hospitals NHS Trust
- Sponsor type
- University, hospital or other
- Collaborators
- CICbioGUNE, University of Kiel, University of Veterinary Medicine Hannover
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05795049
- Sponsor's protocol ID
- 20GA093
- Other IDs
- 288003
- Acronym
- GenMalCarb
- Status last verified
- Dec 2025
- First submitted
- 23 Jan 2023
- Last updated
- 19 Dec 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Ford AC, Lacy BE, Talley NJ. Irritable Bowel Syndrome. N Engl J Med. 2017 Jun 29;376(26):2566-2578. doi: 10.1056/NEJMra1607547. No abstract available.
PubMed 28657875Shepherd SJ, Lomer MC, Gibson PR. Short-chain carbohydrates and functional gastrointestinal disorders. Am J Gastroenterol. 2013 May;108(5):707-17. doi: 10.1038/ajg.2013.96. Epub 2013 Apr 16.
PubMed 23588241Eswaran SL, Chey WD, Han-Markey T, Ball S, Jackson K. A Randomized Controlled Trial Comparing the Low FODMAP Diet vs. Modified NICE Guidelines in US Adults with IBS-D. Am J Gastroenterol. 2016 Dec;111(12):1824-1832. doi: 10.1038/ajg.2016.434. Epub 2016 Oct 11.
PubMed 27725652Ament ME, Perera DR, Esther LJ. Sucrase-isomaltase deficiency-a frequently misdiagnosed disease. J Pediatr. 1973 Nov;83(5):721-7. doi: 10.1016/s0022-3476(73)80362-2. No abstract available.
PubMed 4742566Chumpitazi BP, Lewis J, Cooper D, D'Amato M, Lim J, Gupta S, Miranda A, Terry N, Mehta D, Scheimann A, O'Gorman M, Tipnis N, Davies Y, Friedlander J, Smith H, Punati J, Khlevner J, Setty M, Di Lorenzo C. Hypomorphic SI genetic variants are associated with childhood chronic loose stools. PLoS One. 2020 May 20;15(5):e0231891. doi: 10.1371/journal.pone.0231891. eCollection 2020.
PubMed 32433684Henstrom M, Diekmann L, Bonfiglio F, Hadizadeh F, Kuech EM, von Kockritz-Blickwede M, Thingholm LB, Zheng T, Assadi G, Dierks C, Heine M, Philipp U, Distl O, Money ME, Belheouane M, Heinsen FA, Rafter J, Nardone G, Cuomo R, Usai-Satta P, Galeazzi F, Neri M, Walter S, Simren M, Karling P, Ohlsson B, Schmidt PT, Lindberg G, Dlugosz A, Agreus L, Andreasson A, Mayer E, Baines JF, Engstrand L, Portincasa P, Bellini M, Stanghellini V, Barbara G, Chang L, Camilleri M, Franke A, Naim HY, D'Amato M. Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome. Gut. 2018 Feb;67(2):263-270. doi: 10.1136/gutjnl-2016-312456. Epub 2016 Nov 21.
PubMed 27872184Garcia-Etxebarria K, Zheng T, Bonfiglio F, Bujanda L, Dlugosz A, Lindberg G, Schmidt PT, Karling P, Ohlsson B, Simren M, Walter S, Nardone G, Cuomo R, Usai-Satta P, Galeazzi F, Neri M, Portincasa P, Bellini M, Barbara G, Jonkers D, Eswaran S, Chey WD, Kashyap P, Chang L, Mayer EA, Wouters MM, Boeckxstaens G, Camilleri M, Franke A, D'Amato M. Increased Prevalence of Rare Sucrase-isomaltase Pathogenic Variants in Irritable Bowel Syndrome Patients. Clin Gastroenterol Hepatol. 2018 Oct;16(10):1673-1676. doi: 10.1016/j.cgh.2018.01.047. Epub 2018 Feb 21.
PubMed 29408290Thingholm L, Ruhlemann M, Wang J, Hubenthal M, Lieb W, Laudes M, Franke A, D'Amato M. Sucrase-isomaltase 15Phe IBS risk variant in relation to dietary carbohydrates and faecal microbiota composition. Gut. 2019 Jan;68(1):177-178. doi: 10.1136/gutjnl-2017-315841. Epub 2018 Jan 13. No abstract available.
PubMed 29331942Husein DM, Naim HY. Impaired cell surface expression and digestive function of sucrase-isomaltase gene variants are associated with reduced efficacy of low FODMAPs diet in patients with IBS-D. Gut. 2020 Aug;69(8):1538-1539. doi: 10.1136/gutjnl-2019-319411. Epub 2019 Jul 22. No abstract available.
PubMed 31331993Zheng T, Eswaran S, Photenhauer AL, Merchant JL, Chey WD, D'Amato M. Reduced efficacy of low FODMAPs diet in patients with IBS-D carrying sucrase-isomaltase (SI) hypomorphic variants. Gut. 2020 Feb;69(2):397-398. doi: 10.1136/gutjnl-2018-318036. Epub 2019 Jan 18. No abstract available.
PubMed 30658996Spiller RC, Thompson WG. Bowel disorders. Am J Gastroenterol. 2010 Apr;105(4):775-85. doi: 10.1038/ajg.2010.69. No abstract available.
PubMed 20372130Rasquin A, Di Lorenzo C, Forbes D, Guiraldes E, Hyams JS, Staiano A, Walker LS. Childhood functional gastrointestinal disorders: child/adolescent. Gastroenterology. 2006 Apr;130(5):1527-37. doi: 10.1053/j.gastro.2005.08.063.
PubMed 16678566Francis CY, Morris J, Whorwell PJ. The irritable bowel severity scoring system: a simple method of monitoring irritable bowel syndrome and its progress. Aliment Pharmacol Ther. 1997 Apr;11(2):395-402. doi: 10.1046/j.1365-2036.1997.142318000.x.
PubMed 9146781Snaith RP. The Hospital Anxiety And Depression Scale. Health Qual Life Outcomes. 2003 Aug 1;1:29. doi: 10.1186/1477-7525-1-29.
PubMed 12914662Spiller RC, Humes DJ, Campbell E, Hastings M, Neal KR, Dukes GE, Whorwell PJ. The Patient Health Questionnaire 12 Somatic Symptom scale as a predictor of symptom severity and consulting behaviour in patients with irritable bowel syndrome and symptomatic diverticular disease. Aliment Pharmacol Ther. 2010 Sep;32(6):811-20. doi: 10.1111/j.1365-2036.2010.04402.x.
PubMed 20629976
Study at a glance
From the registry record, last updated by the sponsor on 19 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Carbohydrate Maldigestion as a Model to Study Food Hypersensitivity Mechanism and Guide Personalised Treatment Using a Non-invasive Multiparametric Test (Work Package 1)
- ClinicalTrials.gov ID
- NCT05795049
- Acronym / sponsor ID
- GenMalCarb / 20GA093
- Keywords
- nutrigenetics, carbohydrates maldigestion
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 2,000 participants (estimated)
- Lead sponsor
- Nottingham University Hospitals NHS TrustUniversity, hospital or other
- Collaborators
- CICbioGUNE, University of Kiel, University of Veterinary Medicine Hannover
- Study start
- 23 Jul 2024 (actual)
- Primary completion
- 30 Sep 2025 (actual)
- Study completion
- 31 Mar 2026 (estimated)
- First posted
- 3 Apr 2023 (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.
Irritable bowel syndrome (IBS) affects one in seven people with gastrointestinal (GI) symptoms. IBS strongly impacts quality of life, is a leading cause of work absenteeism, and consumes 0.5% of the healthcare annual budget. It manifests in women more than men with symptoms including abdominal pain, bloating, constipation (IBS-C), diarrhoea (IBS-D), and mixed presentations (IBS-M) (1). The development of therapeutic options is hampered by the poor understanding of the underlying cause of symptoms.
Many patients find that certain foods (particularly carbohydrates) trigger their symptoms, and avoiding such foods has been shown effective in IBS, like in the low-FODMAP (fermentable oligo-, di-, mono-saccharides and polyols) exclusion diet.
This has suggested that the food-symptom relation may involve malabsorption of carbohydrates due to inefficient digestion. However only a percentage of patients respond to this diet. Recently it has been reported that a subset of IBS carries hypomorphic (defective) gene variant of the sucrase isomaltase (SI), the enzyme that normally digests carbohydrates, sucrose and starch. This carbohydrate maldigestion (the breakdown of complex carbohydrates by a person's small bowel enzymes) is characterized by diarrhoea, abdominal pain and bloating, which are also features of IBS. This possibly occurs via accumulation of undigested carbohydrates in the large bowel, where they cause symptoms due to gas production following bacterial fermentation. Similar mechanisms may be acting at the level of other enzymes involved in the digestion, breakdown and absorption of carbohydrates (carb digestion genes -CDGs). Aim of the study is to study the prevalence of this genetic alteration in a large number of IBS patients as compared to asymptomatic controls.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| IBS Patient | – | Other: Stool and saliva sample collection, Other: Questionnaire completionIBS patient with diarrhoea or alternating bowel habit |
| Healthy subject | – | Other: Stool and saliva sample collection, Other: Questionnaire completionParticipants without IBS |
Who may qualify
- Ages
- 5 to 70 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Multicentre study. IBS patients identified through secondary and tertiary care gastroenterological clinics. Asymptomatic adult controls recruited at the same site as respective patients or, for instance, from transfusion clinics, blood donor centres, bowel cancer screening as long as data on the absence of symptoms is documented.
Key inclusion criteria (7 listed)
- Patients age between 5 and 70 years of age.
- Patients with IBS-D or IBS-M as defined by the Rome III criteria.
- Previous negative endoscopy with biopsies excluding IBD or microscopic colitis in patients above 50 years old
- Negative relevant additional screening or consultation whenever appropriate
- Ability to conform to the study protocol
Key exclusion criteria (10 listed)
- Patients with IBS-C or IBS-U according to Rome III criteria
- Patients with any condition which, in the opinion of the investigator, makes the patient unsuitable for participation in the study.
- Patients on opioids
- Patients with concurrent organic gastrointestinal disease (inflammatory bowel disease, celiac disease, cancer), or a major disease such as diabetes, uncontrolled thyroid disease
- Patients with a history of bowel surgery (not appendectomy or cholecystectomy)
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 |
|---|---|---|
| Stool and saliva sample collectionStool and saliva samples collection | Other | Healthy subject, IBS Patient |
| Questionnaire completionQuestionnaire on; * demographic, ethnicity, IBS subtype, post-infection onset, previous surgeries * IBS severity score for adults * Hospital Anxiety and Depression scores for adults * Somatization score for adults * Total glucose and fructose and excess fructose, lactose, sorbitol, mannitol, oligosaccharides (Fructans and GOS) as measured by CNAQ questionnaire for adults and children * Quality of Life as measured by the PedsQL™ GI Symptoms Module * GI symptoms as measured by the PedsQL™ GI Symptoms Module * Anxiety, Depression as measured by the Pediatric PROMIS® | Other | Healthy subject, IBS Patient |
Primary outcome
number of IBS-D and IBS-M with of SI and CDG hypomorphic variants as compared to asymptomatic controls
Time frame: baseline
the prevalence of SI and CDG hypomorphic variants in IBS-D and IBS-M patients across countries and ethnicities, compared to asymptomatic controls
14 secondary outcomes
Difference in age between patients carriers and non-carriers of defective (hypomorphic) gene
Time frame: baseline
Difference in gender between patients carriers and non-carriers of defective (hypomorphic) gene
Time frame: baseline
Difference in ethnicity between patients carriers and non-carriers of defective (hypomorphic) gene
Time frame: baseline
Difference in IBS subtype between patients carriers and non-carriers of defective (hypomorphic) gene
Time frame: baseline
Difference in post-infectious onset between patients carriers and non-carriers of defective (hypomorphic) gene
Time frame: baseline
Difference in number of previous abdominal surgery between patients carriers and non-carriers of defective (hypomorphic) gene
Time frame: baseline
Difference in symptoms presentations between patients carriers and non-carriers of defective (hypomorphic) gene
Time frame: baseline
Difference in anxiety and depression between patients carriers and non-carriers of defective (hypomorphic) gene
Time frame: baseline
Difference in somatisation between patients carriers and non-carriers of defective (hypomorphic) gene
Time frame: baseline
Difference in habitual intake of sugars between patients carriers and non-carriers of defective (hypomorphic) gene
Time frame: baseline
Difference in quality of life between patients carriers and non-carriers of defective (hypomorphic) gene
Time frame: baseline
Difference in symptoms between patients carriers and non-carriers of defective (hypomorphic) gene
Time frame: baseline
Difference in anxiety and depression between paediatric patients carriers and non-carriers of defective (hypomorphic) gene
Time frame: baseline
Difference in in vitro SI enzyme activity in human cells with defective gene as compare with those with normal gene
Time frame: baseline
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Dec 2025.
- Background: PubMed 28657875Ford AC, Lacy BE, Talley NJ. Irritable Bowel Syndrome. N Engl J Med. 2017 Jun 29;376(26):2566-2578. doi: 10.1056/NEJMra1607547. No abstract available.
- Background: PubMed 23588241Shepherd SJ, Lomer MC, Gibson PR. Short-chain carbohydrates and functional gastrointestinal disorders. Am J Gastroenterol. 2013 May;108(5):707-17. doi: 10.1038/ajg.2013.96. Epub 2013 Apr 16.
- Background: PubMed 27725652Eswaran SL, Chey WD, Han-Markey T, Ball S, Jackson K. A Randomized Controlled Trial Comparing the Low FODMAP Diet vs. Modified NICE Guidelines in US Adults with IBS-D. Am J Gastroenterol. 2016 Dec;111(12):1824-1832. doi: 10.1038/ajg.2016.434. Epub 2016 Oct 11.
- Background: PubMed 4742566Ament ME, Perera DR, Esther LJ. Sucrase-isomaltase deficiency-a frequently misdiagnosed disease. J Pediatr. 1973 Nov;83(5):721-7. doi: 10.1016/s0022-3476(73)80362-2. No abstract available.
- Background: PubMed 32433684Chumpitazi BP, Lewis J, Cooper D, D'Amato M, Lim J, Gupta S, Miranda A, Terry N, Mehta D, Scheimann A, O'Gorman M, Tipnis N, Davies Y, Friedlander J, Smith H, Punati J, Khlevner J, Setty M, Di Lorenzo C. Hypomorphic SI genetic variants are associated with childhood chronic loose stools. PLoS One. 2020 May 20;15(5):e0231891. doi: 10.1371/journal.pone.0231891. eCollection 2020.
- Background: PubMed 27872184Henstrom M, Diekmann L, Bonfiglio F, Hadizadeh F, Kuech EM, von Kockritz-Blickwede M, Thingholm LB, Zheng T, Assadi G, Dierks C, Heine M, Philipp U, Distl O, Money ME, Belheouane M, Heinsen FA, Rafter J, Nardone G, Cuomo R, Usai-Satta P, Galeazzi F, Neri M, Walter S, Simren M, Karling P, Ohlsson B, Schmidt PT, Lindberg G, Dlugosz A, Agreus L, Andreasson A, Mayer E, Baines JF, Engstrand L, Portincasa P, Bellini M, Stanghellini V, Barbara G, Chang L, Camilleri M, Franke A, Naim HY, D'Amato M. Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome. Gut. 2018 Feb;67(2):263-270. doi: 10.1136/gutjnl-2016-312456. Epub 2016 Nov 21.
- Background: PubMed 29408290Garcia-Etxebarria K, Zheng T, Bonfiglio F, Bujanda L, Dlugosz A, Lindberg G, Schmidt PT, Karling P, Ohlsson B, Simren M, Walter S, Nardone G, Cuomo R, Usai-Satta P, Galeazzi F, Neri M, Portincasa P, Bellini M, Barbara G, Jonkers D, Eswaran S, Chey WD, Kashyap P, Chang L, Mayer EA, Wouters MM, Boeckxstaens G, Camilleri M, Franke A, D'Amato M. Increased Prevalence of Rare Sucrase-isomaltase Pathogenic Variants in Irritable Bowel Syndrome Patients. Clin Gastroenterol Hepatol. 2018 Oct;16(10):1673-1676. doi: 10.1016/j.cgh.2018.01.047. Epub 2018 Feb 21.
- Background: PubMed 29331942Thingholm L, Ruhlemann M, Wang J, Hubenthal M, Lieb W, Laudes M, Franke A, D'Amato M. Sucrase-isomaltase 15Phe IBS risk variant in relation to dietary carbohydrates and faecal microbiota composition. Gut. 2019 Jan;68(1):177-178. doi: 10.1136/gutjnl-2017-315841. Epub 2018 Jan 13. No abstract available.
- Background: PubMed 31331993Husein DM, Naim HY. Impaired cell surface expression and digestive function of sucrase-isomaltase gene variants are associated with reduced efficacy of low FODMAPs diet in patients with IBS-D. Gut. 2020 Aug;69(8):1538-1539. doi: 10.1136/gutjnl-2019-319411. Epub 2019 Jul 22. No abstract available.
- Background: PubMed 30658996Zheng T, Eswaran S, Photenhauer AL, Merchant JL, Chey WD, D'Amato M. Reduced efficacy of low FODMAPs diet in patients with IBS-D carrying sucrase-isomaltase (SI) hypomorphic variants. Gut. 2020 Feb;69(2):397-398. doi: 10.1136/gutjnl-2018-318036. Epub 2019 Jan 18. No abstract available.
- Background: PubMed 20372130Spiller RC, Thompson WG. Bowel disorders. Am J Gastroenterol. 2010 Apr;105(4):775-85. doi: 10.1038/ajg.2010.69. No abstract available.
- Background: PubMed 16678566Rasquin A, Di Lorenzo C, Forbes D, Guiraldes E, Hyams JS, Staiano A, Walker LS. Childhood functional gastrointestinal disorders: child/adolescent. Gastroenterology. 2006 Apr;130(5):1527-37. doi: 10.1053/j.gastro.2005.08.063.
- Sponsor website pageLink provided by the sponsor.
- Individual participant dataSharing planned: No
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 Irritable Bowel Syndrome (IBS) and Sucrase Isomaltase Deficiency, run by Nottingham University Hospitals NHS Trust 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 7 inclusion and 10 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: under way, not looking for participants, as of the sponsor's last update on 19 Dec 2025. 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?
This study is still under way. Results are not available in the source record yet.
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?
number of IBS-D and IBS-M with of SI and CDG hypomorphic variants as compared to asymptomatic controls (time frame: baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05795049, which also lists 17 linked publications.
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 19 Dec 2025.