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| Name | Class |
|---|---|
| cic bioGune | UNKNOWN |
| Institute for Clinical Molecular Biology, Christian-Albrechts-University, Kiel | UNKNOWN |
| University of Veterinary Medicine Hannover | UNKNOWN |
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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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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Congenital Sucrase-Isomaltase Deficiency | Subjects with congenital sucrase-isomaltase deficiency (CSID) who report symptoms |
| |
| Healthy subjects | Subjects without CSID |
| |
| Asymptomatic controls single carriers | Subjects single carriers for sucrose isomaltase deficiency without symptoms |
| |
| Asymptomatic controls double carriers | Subjects double carriers for sucrose isomaltase deficiency without symptoms |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Blood, stool and saliva collection | Other | Blood, stool and saliva collection |
|
| Measure | Description | Time Frame |
|---|---|---|
| Area under the curve | Area under curve (AUC) of the change from baseline for the MRI measured small bowel water content after the drink test with sucrose | 0, 30, 60, 90, 120, 150, 180, 210, 240, 270, 300 minutes after the drink test |
| Measure | Description | Time Frame |
|---|---|---|
| Habitual diet questionnaire | subject will report food eaten at each meal | during 4 days before the MRI study |
| MRI measured colon free water content | MRI measured colon free water content, (in arbitrary units) after the drink test |
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Inclusion Criteria for CSID subjects:
Exclusion Criteria for CSID subjects:
Inclusion Criteria for healthy participants:
Exclusion Criteria for healthy participants:
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Single-centre study. CSID subjects will be identified and recruited either with the help of the PPI group through advertisements on social media or flyers at Clinical Genetics and Genomic Conferences and Adult Metabolic Disorder Conferences.
Healthy participants will be recruited through social media advertisements and posters.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Maura Corsetti, Medical Doctor | Contact | +447976448821 | maura.corsetti@nottingham.ac.uk |
| Name | Affiliation | Role |
|---|---|---|
| Maura Corsetti, Medical Doctor | University of Nottingham | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Nottingham | Nottingham | NG7 2UH | United Kingdom |
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saliva, stools and blood samples.
| Questionnaire completion | Other | Questionnaire on:
|
|
| Magnetic Resonance Imaging (MRI) and Breath test | Diagnostic Test | MRI scans and breath test samples collected after drink test with sucrose |
|
| 0, 30, 60, 90, 120, 150, 180, 210, 240, 270, 300 minutes after the drink test |
| MRI measured small bowel and colon gas content | small bowel and colon gas content (in arbitrary units) after the drink test | 0, 30, 60, 90, 120, 150, 180, 210, 240, 270, 300 minutes after the drink test |
| MRI measured small bowel and colon volume | small bowel and colon volume in arbritary units after drink test | 0, 30, 60, 90, 120, 150, 180, 210, 240, 270, 300 minutes after the drink test |
| MRI measured oro-caecal transit time | oro-caecal transit time (OCTT), (in arbitrary units) after the drink test | 0, 30, 60, 90, 120, 150, 180, 210, 240, 270, 300 minutes after the drink test |
| Breath hydrogen and methane concentration measured in parts per million after drink test | baseline and then 0, 30, 60, 90, 120, 150, 180, 210, 240, 270, 300 minutes after the drink test |
| Symptoms of nausea, gas/flatulence, bloating and pain/discomfort measured using a Composite Symptom Score after the drink test | 0, 30, 60, 90, 120, 150, 180, 210, 240, 270, 300 minutes after the drink test |
| Total glucose and fructose and excess fructose, lactose, sorbitol, mannitol, oligosaccharides (Fructans and GOS) as measured by Comprehensive Nutrition Assessment Questionnaire | CNAQ questionnaires results | time 0 |
| Hospital Anxiety and Depression Score | scale measuring the score of anxiety and depression | time 0 |
| The Patient Health Questionnaire 12 | Scale measuring the psychosomatic score | Time 0 |
| Stool microbiota taxonomic | Analysis of of microbiota taxonomic in the two stool samples collected by patient during the day before the MRI study day | Up to 3 days before the MRI study |
| Stool microbiota alpha and beta diversity measurements | Analysis of alfa and beta diversity of microbiota in the two stool samples collected by patient before the study day | Up to three days before the MRI study day |
| Serum levels of short chain fatty acids | Serum levels | At baseline and 0, 60, 120, 180, 240, 300 minutes after the drink test |
| Circulating blood glucose levels | Baseline and then 0, 15, 30, 45, 60, 75, 90, 105, 120, 150, 180, 210, 240, 270, 300 minutes after the drink test |
| Serum levels of surrogates of intestinal permeability (occludin, lipopolysaccharide binding protein) | Serum levels | At baseline and 0, 60, 120, 180, 240, 300 minutes after the drink test |
| Serum levels of lipidome and free fatty acids | Serum levels | At baseline and 0, 60, 120, 180, 240, 300 minutes after the drink test |
| Serum levels of total serum N-glycome and glucose | Serum levels | At baseline and 0, 60, 120, 180, 240, 300 minutes after the drink test |
| Food and drink avoidance questionnaire | patients will respond to the below questions:
Why do you try to avoid this food or drink partially or completely (including if you have been told to avoid it by a health care professional such as a doctor or dietitian) | at time 0 |
| Leeds Food Preference Questionnaire | The LFPQ consists of two tasks requiring different interaction from the participant. One task requires an explicit evaluation of each food item using visual analogue scales. The other requires a quick choice to be made between paired combinations of foods. The order of task completion is randomised. | at time 0 |
| Food Craving Questionnaire - State (FCQ-S) | participants respond to 14 questions about sugary food and they will respond with a scale from 1 = strongly disagree, 2 = disagree, 3 = neutral, 4 = agree, 5 = strongly agree. | at time 0 |
| ID | Term |
|---|---|
| C538139 | Sucrase-isomaltase deficiency, congenital |
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| ID | Term |
|---|---|
| D001800 | Blood Specimen Collection |
| D003672 | Defecation |
| D008279 | Magnetic Resonance Imaging |
| D001944 | Breath Tests |
| ID | Term |
|---|---|
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |
| D004068 | Digestive System Physiological Phenomena |
| D055688 | Digestive System and Oral Physiological Phenomena |
| D014054 | Tomography |
| D003952 | Diagnostic Imaging |
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