Study of Gut Microbiota in Primary Immune Deficiency, Possibly Associated With Inflammatory Bowel Disease (DIPobiota)

Study of Gut Microbiota in Primary Immune Deficiencies, Possibly Associated With Inflammatory Bowel Disease (Chronic Granulomatous Disease, XIAP Gene Deficiency, or TTC7A Gene Deficiency)

Some Primary Immune Deficiencies can be associated with an inflammatory bowel disease, mimicking Crohn disease : the Chronic Granulomatous Disease (CGD), the XIAP deficiency, and the TTC7A deficiency.

This inflammatory bowel disease is frequent but inconstant, raising questions about other factors contributing to the disease. The aim of our study is to analyze, describe and compare the gut microbiota of patients with those primary immune deficiency, with or without intestinal disease.

The investigators can expect, in the long term, to compare on a same patient, the gut microbiota evolution, and to assess the role of gut microbiota modifications on the onset of an inflammatory bowel disease.

Study Overview

• Status: Completed
• Conditions: Primary Immune Deficiencies
• Intervention / Treatment: Biological: Biological sampling

Detailed Description

The investigators will include patients (adults or children), with Primary Immune Deficiency (CGD, XIAP or TTC7A deficiencies), and they will collect feces samples from them.

In parallel, as control groups, patients with no inflammatory bowel disease and no primary immune deficiency will be included, and also patients suffering from Crohn's disease without known primary immune deficiency.

The laboratory collaborators will then realize analyzes on the microbiota collected for all patients.

The study team will then analyze the microbiota composition of the different types of patients, and try to identify some factors, associated with the appearance of an inflammatory disease on these patients.

• Study Type: Observational
• Enrollment (Actual): 51

Contacts and Locations

Study Locations

• France
  • Lille, France, 59037
    • CHRU
  • Paris, France, 75010
    • Saint-Louis Hospital
  • Paris, France, 75015
    • Necker - Enfants Malades Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: ADULT; OLDER_ADULT; CHILD
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

Inclusion of patients with PID Inclusion of control patients, without PID

Description

Inclusion Criteria (Patients with one of the 3 specific PID mentioned above):

• Presenting a Primary Immune Deficiency (CGD, XIAP ou TTC7A deficiency) with or without inflammatory digestive disease

Inclusion Criteria (Control patients without one of the 3 specific PID mentioned above):

• No antibiotic treatment in the month preceding the inclusion

Exclusion Criteria (all patients):

• Patients having a received a gene therapy or a Hematopoietic stem cell transplantation

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Patients with PID; Biological sampling: collection of feces. In case of blood samples availability in hospital biobank : analyzes of these samples in the frame of this research	Biological: Biological sampling; Biological sampling
Control patients, with no PID; Biological sampling: collection of feces.	Biological: Biological sampling; Biological sampling

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Number of factors associated with the onset of an inflammatory colitis in patients with three Primary Immuno-Deficiencies, identified in the study population	3 years and 8 months

Collaborators and Investigators

• Sponsor: Imagine Institute
• Collaborators: Assistance Publique - Hôpitaux de Paris; Saint Antoine University Hospital
• Investigators: Study Director: Sylvain Latour, Imagine Institute; Study Chair: Harry Sokol, Saint-Antoine Hospital; Study Chair: Olivier Join-Lambert, Necker - Enfants Malades Hospital

Study record dates

Study Major Dates

• Study Start (ACTUAL): February 1, 2015
• Primary Completion (ACTUAL): February 1, 2017
• Study Completion (ACTUAL): February 1, 2017

Study Registration Dates

• First Submitted: September 5, 2016
• First Submitted That Met QC Criteria: September 16, 2016
• First Posted (ESTIMATE): September 21, 2016

Study Record Updates

• Last Update Posted (ACTUAL): August 25, 2017
• Last Update Submitted That Met QC Criteria: August 24, 2017
• Last Verified: August 1, 2017

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Digestive System Diseases; Immune System Diseases; Gastrointestinal Diseases; Genetic Diseases, Inborn; Gastroenteritis; Intestinal Diseases; Inflammatory Bowel Diseases; Immunologic Deficiency Syndromes; Primary Immunodeficiency Diseases
• Other Study ID Numbers: IMIS2014-02

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO