Composition and Function of Gut Microbiota in Porto-sinusoidal Vascular Disease Associated With Variable Common Immunodeficiency

Study Overview
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Brief Summary
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This aim of this study is the evaluation of the gut microbiota imbalance occurrence and its characterization in patients with common variable immunodeficiency associated to an enteropathy with or without porto-sinusoidal vascular disease.

Detailed Description
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Common variable immunodeficiency (CVID) is the most common symptomatic humoral deficiency in adults and is accompanied by digestive symptoms. It is associated with intestinal dysbiosis and half of the patients exert a clinical digestive disease, called enteropathy. Hepatic complications characterized by porto-sinusoidal vascular disease are observed in 10% of the CVID patients. This complication is associated with a high morbi-mortality. In our center experience and in the literature, clinical occurrence of enteropathy and hepatic disease are highly correlated. Considering (i) the anatomical link between the intestinal tractus and the portal circulation, (ii) the clinical correlation between enteropathy and the liver disease and (iii) the established relation between gut microbiota and alcoholic cirrhosis, we speculate that patients whom develop portosinusoidal complications exert a peculiar intestinal dysbiosis. This study could contribute to a better understanding of the hepatic disease development, hence allowing us to suggest novel therapies based on gut microbiota modification.

Official Title
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Composition and Function of Gut Microbiota in Porto-sinusoidal Vascular Disease Associated With Variable Common Immunodeficiency

Conditions
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Common Variable Immunodeficiency, Vascular Diseases

Intervention / Treatment
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* Biological: Stool sample


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Age ≥ 18 years Patients with a common variable immunodeficiency according to immune deficiencies classification associated with : enteropathy and porto-sinusoidal vascular disease enteropathy without porto-sinuoidal vascular disease Subject with health insurance (AME excepted) Verbal agreement to participate at the study Exclusion Criteria: - Laxatives in the month preceding stool sample

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Common variable immunodeficiency with enteropathy<br>20 patients with a common variable immunodeficiency associated to enteropathy will be recruited in the study and will be compared with patients with a common variable immunodeficiency associated to enteropathy and porto-sinusoidal vascular disease | Biological: Stool sample<br>* Only 1 stool sample will be collected during the patient hospitalisation scheduled within standard care.<br>|
| Common variable immunodeficiency with enteropathy and porto-sinusoidal vascular disease<br>20 patients with common variable immunodeficiency associated to enteropathy and porto-sinusoidal vascular disease will be recruited in the study and will be compared with patients with a common variable immunodeficiency associated to enteropathy | Biological: Stool sample<br>* Only 1 stool sample will be collected during the patient hospitalisation scheduled within standard care.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Occurrence of a dysbiosis | Evaluate the occurrence of dysbiosis and characterize gut microbiota (function and composition) by genomic (16S) and metabolomic (short chain fatty acids, bile acids, tryptophan metabolites) analyses from stool samples of patients with a common variable immunodeficiency with only enteropathy compared to patients with common variable immunodeficiency with enteropathy and porto-sinusoidal vascular disease | Day 7 | 
| Characterization of gut microbiota | Evaluate the occurrence of dysbiosis and characterize gut microbiota (function and composition) by genomic (16S) and metabolomic (short chain fatty acids, bile acids, tryptophan metabolites) analyses from stool samples of patients with a common variable immunodeficiency with only enteropathy compared to patients with common variable immunodeficiency with enteropathy and porto-sinusoidal vascular disease | Day 7 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Fecal calprotectin measurement | Evaluate the contribution of fecal calprotectin measurement at diagnosis | Day 7 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Common variable immunodeficiency, Porto-sinusoidal vascular disease, Gut microbiota