Clinical trial NCT02909244: Study of Gut Microbiota in Primary Immune Deficiency, Possibly Associated With Inflammatory Bowel Disease
Official title: Study of Gut Microbiota in Primary Immune Deficiencies, Possibly Associated With Inflammatory Bowel Disease (Chronic Granulomatous Disease, XIAP Gene Deficiency, or TTC7A Gene Deficiency)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Primary Immune Deficiencies
Lead sponsor: Imagine Institute
Sponsor class: OTHER
Collaborators: name: Saint Antoine University Hospital
name: Assistance Publique - Hôpitaux de Paris
First posted: 2016-09-21
Enrollment: 51
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Inclusion of patients with PID Inclusion of control patients, without PID

Brief summary: 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.

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.

Eligibility criteria: 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

Primary outcomes:
measure: Number of factors associated with the onset of an inflammatory colitis in patients with three Primary Immuno-Deficiencies, identified in the study population
timeFrame: 3 years and 8 months
Secondary outcomes:
Other outcomes:
Locations:
city: Lille
country: France
facility: CHRU
city: Paris
country: France
facility: Saint-Louis Hospital
city: Paris
country: France
facility: Necker - Enfants Malades Hospital
Study officials:
affiliation: Imagine Institute
name: Sylvain Latour
role: STUDY_DIRECTOR
affiliation: Imagine Institute
name: Alain Fischer
role: STUDY_CHAIR
affiliation: Saint-Antoine Hospital
name: Harry Sokol
role: STUDY_CHAIR
affiliation: Necker - Enfants malades Hospital
name: Olivier Join-Lambert
role: STUDY_CHAIR
References: