Genetic Carbohydrate Maldigestion As Model to Study Food Hypersensitivity Mechanism (WORK PACKAGE 2)

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

NOT_YET_RECRUITING

Total Enrollment

80 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-03-31

Study Completion Date

2026-03-31

Brief Summary

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Irritable bowel syndrome (IBS) affects one in seven people with gastrointestinal (GI) symptoms that are detected without an established underlying organic cause. 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). The development of therapeutic options is hampered by the heterogeneity of IBS, the lack of specificity of its symptom-based definitions, and the poor understanding of the underlying pathophysiological mechanisms.

Many people with IBS find that certain foods (particularly carbohydrates) trigger their symptoms and avoiding such foods has been shown to be effective in IBS. An example of such a diet is the low-FODMAP (fermentable oligo-, di-, monosaccharides and polyols) exclusion diet, developed by researchers at Monash University. This has suggested that the food-symptom relation may involve malabsorption of carbohydrates due to inefficient enzymatic breakdown of polysaccharides. However, only a percentage of subjects respond to this diet. Overall, the current findings relating to SI, suggest a strong potential for effective personalized therapeutic (dietary) interventions in subgroups of IBS subjects and suggest similar mechanisms should be investigated in relation to other genes involved in the digestion and absorption of carbohydrates (CDGs). This project aims to understand what the mechanisms for GI symptoms in subjects with these genetic alterations are. Aim of the study is to assess the gut response to a sucrose challenge in single-and double-carriers of the common hypomorphic sucrase-isomaltase variant p. (Val15Phe) vs non- carriers (negative controls) and CSID subjects (positive controls), applying an MRI multiparametric test combined with a breath test.

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Detailed Description

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Conditions

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Sucrase Isomaltase Deficiency

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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Congenital Sucrase-Isomaltase Deficiency

Subjects with congenital sucrase-isomaltase deficiency (CSID) who report symptoms

Blood, stool and saliva collection

Intervention Type OTHER

Blood, stool and saliva collection

Questionnaire completion

Intervention Type OTHER

Questionnaire on:

* Hospital Anxiety and Depression Score (HADS) 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
* Patient Health Questionnaire 12 (PHQ-12) Somatic Symptom scale

Magnetic Resonance Imaging (MRI) and Breath test

Intervention Type DIAGNOSTIC_TEST

MRI scans and breath test samples collected after drink test with sucrose

Healthy subjects

Subjects without CSID

Blood, stool and saliva collection

Intervention Type OTHER

Blood, stool and saliva collection

Questionnaire completion

Intervention Type OTHER

Questionnaire on:

* Hospital Anxiety and Depression Score (HADS) 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
* Patient Health Questionnaire 12 (PHQ-12) Somatic Symptom scale

Magnetic Resonance Imaging (MRI) and Breath test

Intervention Type DIAGNOSTIC_TEST

MRI scans and breath test samples collected after drink test with sucrose

Asymptomatic controls single carriers

Subjects single carriers for sucrose isomaltase deficiency without symptoms

Blood, stool and saliva collection

Intervention Type OTHER

Blood, stool and saliva collection

Questionnaire completion

Intervention Type OTHER

Questionnaire on:

* Hospital Anxiety and Depression Score (HADS) 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
* Patient Health Questionnaire 12 (PHQ-12) Somatic Symptom scale

Magnetic Resonance Imaging (MRI) and Breath test

Intervention Type DIAGNOSTIC_TEST

MRI scans and breath test samples collected after drink test with sucrose

Asymptomatic controls double carriers

Subjects double carriers for sucrose isomaltase deficiency without symptoms

Blood, stool and saliva collection

Intervention Type OTHER

Blood, stool and saliva collection

Questionnaire completion

Intervention Type OTHER

Questionnaire on:

* Hospital Anxiety and Depression Score (HADS) 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
* Patient Health Questionnaire 12 (PHQ-12) Somatic Symptom scale

Magnetic Resonance Imaging (MRI) and Breath test

Intervention Type DIAGNOSTIC_TEST

MRI scans and breath test samples collected after drink test with sucrose

Interventions

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Blood, stool and saliva collection

Intervention Type OTHER

Questionnaire completion

Questionnaire on:

* Hospital Anxiety and Depression Score (HADS) 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
* Patient Health Questionnaire 12 (PHQ-12) Somatic Symptom scale

Intervention Type OTHER

Magnetic Resonance Imaging (MRI) and Breath test

MRI scans and breath test samples collected after drink test with sucrose

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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Inclusion Criteria

* Aged ≥18 (all groups)
* Subjects with genetically proven CSID
* Previous negative endoscopy with biopsies excluding IBD or microscopic colitis in people above 50 years old.
* Negative relevant additional screening (including exclusion of coeliac disease with TTG and IgA)
* Ability to conform to the study protocol including the sucrose challenge.

* Aged ≥18 years
* Absence of Rome III IBS criteria
* Non-SI variant confirmed (group 1) or Single-SI variants confirmed (group 2) or Double - SI variants confirmed (group 3)
* Ability to conform to the study protocol including the sucrose challenge

Exclusion Criteria

* Subjects on opioids and use of drugs known to alter GI motility for the duration of the study.
* Presence of concurrent organic gastrointestinal disease (inflammatory bowel disease, coeliac disease, cancer), or a major disease such as diabetes, uncontrolled thyroid disease
* Any history of bowel surgery (not appendectomy or cholecystectomy)
* Contraindication to MRI scanning
* Having taken part in another interventional research study within 3 months
* Concurrent major confounding condition (e.g. alcohol or substance abuse in the last 2 years) based on the study clinician's judgement.

* 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).
* Any history of bowel surgery (not appendectomy or cholecystectomy)
* Contraindication to MRI scanning
* Having taken part in another interventional research study within 3 months
* Concurrent major confounding condition (e.g. alcohol or substance abuse in the last 2 years) based on the clinician's judgement.

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes