An interventional study of Low-FODMAP Diet in Fabry Disease, sponsored by Acibadem University. Active, not recruiting at 1 site in Turkey (Türkiye). Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-10-22.
Sponsored by Acibadem University · Not applicable, Interventional, and Treatment
The aim of this randomized controlled study is to evaluate the effects of a six-week low-fermentable oligosaccharides, disaccharides, monosaccharides, and polyols (FODMAP) diet on gastrointestinal symptoms, inflammatory biomarkers, nutritional status, and quality of life in pediatric and adult patients with Fabry disease.
A total of 30 patients with genetically or laboratory-confirmed Fabry disease are planned to be enrolled and randomly assigned to either an intervention group receiving an individualized low-FODMAP diet or a control group continuing their habitual diet. Assessments will be conducted at baseline and after six weeks. Gastrointestinal symptoms, stool characteristics, quality of life, anthropometric measurements, body composition, dietary intake, and biochemical parameters, including inflammatory biomarkers, will be evaluated.
The study aims to investigate whether a low-FODMAP diet may provide additional benefits in managing gastrointestinal manifestations and inflammation in patients with Fabry disease.
Fabry disease is a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A, leading to the progressive accumulation of glycosphingolipids, particularly globotriaosylceramide (Gb3), in various tissues and organs. Gastrointestinal manifestations, including abdominal pain, bloating, nausea, diarrhea, and constipation, are common and can negatively affect nutritional status and quality of life. Although enzyme replacement therapy is an established treatment for Fabry disease, gastrointestinal symptoms may persist despite treatment.
Fermentable oligosaccharides, disaccharides, monosaccharides, and polyols (FODMAPs) are short-chain carbohydrates that may contribute to gastrointestinal symptoms by increasing intestinal water content and colonic gas production. A low-FODMAP diet has demonstrated beneficial effects on gastrointestinal symptoms in patients with irritable bowel syndrome, and preliminary evidence suggests potential benefits in patients with Fabry disease. However, its effects on inflammatory biomarkers and nutritional parameters in this patient population remain insufficiently investigated.
This randomized controlled study aims to evaluate the effects of a six-week low-FODMAP diet on gastrointestinal symptoms, inflammatory biomarkers, nutritional status, and quality of life in pediatric and adult patients with Fabry disease.
The study will include 30 patients with genetically or laboratory-confirmed Fabry disease who are followed at Istanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Division of Pediatric Nutrition and Metabolism. Participants will be randomly assigned to one of two groups:
Intervention group: Participants will receive an individualized low-FODMAP diet designed to meet their age-, sex-, and energy-specific nutritional requirements. Foods high in fermentable carbohydrates, including excess fructose, lactose, fructans, galacto-oligosaccharides, and polyols, will be restricted and replaced with suitable low-FODMAP alternatives. Individualized meal plans will be provided, and dietary adherence will be monitored through daily online follow-up sessions throughout the six-week intervention.
Control group: Participants will continue their habitual, unrestricted diet without a specific dietary intervention during the six-week study period.
At baseline and after six weeks, participants will undergo comprehensive nutritional, anthropometric, biochemical, and clinical assessments. Anthropometric measurements will include body weight, height, skinfold thickness, mid-upper arm circumference, and body composition assessed by bioelectrical impedance analysis. Dietary intake will be evaluated using three-day food records and food frequency assessments.
Gastrointestinal symptoms will be assessed using the Gastrointestinal Symptom Rating Scale (GSRS), while stool characteristics will be evaluated using the Bristol Stool Form Scale. Health-related quality of life will be assessed using the 36-Item Short Form Health Survey (SF-36).
Biochemical assessments will include hematological and nutritional parameters, lyso-globotriaosylceramide (Lyso-Gb3), and inflammatory biomarkers, including neopterin, biopterin, tryptophan, and kynurenine.
Changes in gastrointestinal symptoms, inflammatory biomarkers, nutritional parameters, and quality of life will be compared between the intervention and control groups. The study will also investigate potential relationships between dietary adherence, gastrointestinal symptom improvement, inflammatory biomarkers, and quality of life.
The findings are expected to contribute to the understanding of the potential role of individualized dietary interventions in the management of gastrointestinal manifestations and inflammation in Fabry disease.
246 studies on the registry are indexed under Fabry Disease; 56 are open to participants now.
This study's planned enrollment of 30 is above the median of 22 across 108 interventional studies indexed under Fabry Disease.
Browse Fabry Disease studies →Acibadem University is the lead sponsor of 218 studies on the registry; 49 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Patients with genetically or laboratory-confirmed Fabry disease. Patients without a diagnosis of chronic kidney disease. Patients who have not previously followed a special or therapeutic diet. Patients who are not pregnant or breastfeeding. Patients who provide informed consent to participate in the study.
Exclusion Criteria:
Patients with a diagnosis of chronic kidney disease. Patients who do not provide informed consent to participate in the study.
Participants will receive an individualized low-FODMAP diet for six weeks, with daily online monitoring of dietary adherence.
Behavioral: Low-FODMAP Diet
Participants will continue their habitual unrestricted diet for six weeks without receiving a specific dietary intervention.
Participants assigned to the intervention group will follow an individualized low-FODMAP diet for six weeks. The dietary intervention will be tailored to participants' age, sex, and energy requirements. Foods high in fermentable oligosaccharides, disaccharides, monosaccharides, and polyols, including excess fructose, lactose, fructans, galacto-oligosaccharides, and polyols, will be restricted and replaced with suitable low-FODMAP alternatives. Participants will receive individualized meal plans, and dietary adherence will be monitored through daily online follow-up sessions throughout the intervention period.
Change in Gastrointestinal Symptom Rating Scale (GSRS) Score
Gastrointestinal symptoms will be evaluated using the Gastrointestinal Symptom Rating Scale (GSRS). The GSRS assesses gastrointestinal symptoms across five domains: abdominal pain, reflux, indigestion, diarrhea, and constipation. Each item is scored on a seven-point Likert scale, with higher scores indicating more severe gastrointestinal symptoms. Changes in GSRS scores from baseline to week 6 will be compared between the intervention and control groups.
Time frame: Baseline and Week 6
Change in Plasma Neopterin Levels
Neopterin levels will be measured at baseline and after six weeks to evaluate changes in inflammatory status. Changes from baseline will be compared between the intervention and control groups.
Time frame: Baseline and Week 6
Change in Interleukin-6 (IL-6) Levels
Interleukin-6 (IL-6) concentrations will be measured at baseline and after six weeks to evaluate changes in systemic inflammation following the dietary intervention. Changes in IL-6 concentrations from baseline to week 6 will be compared between the low-FODMAP diet and control groups.
Time frame: Baseline and Week 6
Change in Tumor Necrosis Factor-alpha (TNF-α) Levels
Tumor necrosis factor-alpha (TNF-α) concentrations will be measured at baseline and after six weeks to evaluate changes in systemic inflammation following the dietary intervention. Changes in TNF-α concentrations from baseline to week 6 will be compared between the low-FODMAP diet and control groups.
Time frame: Baseline and Week 6
Change in Plasma Biopterin Levels
Biopterin levels will be measured at baseline and after six weeks. Changes from baseline will be compared between the intervention and control groups.
Time frame: Baseline and Week 6
Change in Short Form-36 (SF-36) Health Survey Scores
Health-related quality of life will be assessed using the 36-Item Short Form Health Survey (SF-36). The questionnaire evaluates eight domains of physical and mental health. Domain scores range from 0 to 100, with higher scores indicating better health-related quality of life. Changes from baseline to week 6 will be compared between the intervention and control groups.
Time frame: Baseline and Week 6
Change in Bristol Stool Form Scale Classification
Stool consistency will be assessed using the Bristol Stool Form Scale, which categorizes stool characteristics into seven types (Type 1-7). Changes in stool characteristics between baseline and week 6 will be evaluated.
Time frame: Baseline and Week 6
Change in Lyso-Globotriaosylceramide (Lyso-Gb3) Levels
Lyso-globotriaosylceramide (Lyso-Gb3) concentrations will be measured at baseline and after six weeks. Changes from baseline will be compared between the intervention and control groups.
Time frame: Baseline and Week 6
Plan to share: No — Individual participant data will not be publicly shared due to the rarity of Fabry disease and the potential risk of participant re-identification. Study findings will be disseminated through scientific publications and presentations.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
This study is active, not recruiting, as verified in Jan 2026. You cannot join it, but the record below documents what was studied.
Get an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.