Microbiome Alterations in IL10RA-deficient Patients After HSCT

Study Overview
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Brief Summary
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To elucidate the longitudinal development of intestinal microbiota in patients with IL10RA deficiency after hematopoietic stem cell transplantation (HSCT). The investigators planned to collect fecal samples from IL10RA-deficient patients who received HSCT. Samples were collected more than once every three days after engraftment in lamina flow ward and at least once a week before discharge. Microbial DNA was extracted from the fecal samples. And all analysis was based on the next generation sequencing data.

Detailed Description
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Hematopoietic stem cell transplantation is considered the only curative therapy for patients with interleukin-10 receptor-A(IL10RA) deficiency. The investigators aimed to collect the fecal samples of these patients throughout the conditioning, transplantation until discharge, providing a dense insight into the longitudinal development of intestinal microbiota.

Official Title
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Longitudinal Development of Intestinal Microbiome in IL10RA-deficient Patients After Hematopoietic Stem Cell Transplantation

Conditions
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Inflammatory Bowel Diseases, Microbiota

Intervention / Treatment
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* Procedure: hematopoietic stem cell transplantation


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: IL10RA gene mutations; Eligible for hematopoietic stem cell transplantation. Exclusion Criteria: Unwilling to participate.

Ages Eligible for Study
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Minimum Age: 1 Day
Maximum Age: 6 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| HSCT cohort<br>IL10RA-deficient patients who received hematopoietic stem cell transplantation | Procedure: hematopoietic stem cell transplantation<br>* Reduced intensity conditioning(RIC) chemotherapy regimen before transplantation All patients were cared for in single rooms ventilated with a highly effective particulate air filtration system. All patients received intravenous immunoglobulin and antimicrobial prophylaxis, which included antiviral, antifungal, and Pneumocystis jirovecii prophylaxis with ganciclovir and micafungin, as per routine clinical practice before transplantation. Umbilical cord blood transplantation<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Shannon indices | Shannon index is a popular diversity index in the ecological literature; minimum score is zero, higher values represent a better outcome | during the hospitalization of each eligible patient, an average of 90 days per patient | 
| Simpson indices | Simpson index in ecology is to measure the degree of concentration when individuals are classified into types; scale ranges [0,1]; lower values represent a better outcome | during the hospitalization of each eligible patient, an average of 90 days per patient | 
| relative abundance of Proteobacteria | describe the microbiome at the phylum level | during the hospitalization of each eligible patient, an average of 90 days per patient | 
| relative abundance of Firmicutes | describe the microbiome at the phylum level | during the hospitalization of each eligible patient, an average of 90 days per patient | 
| Clostridium sensus_stricto_1 | describe the microbiome at the genus level | during the hospitalization of each eligible patient, an average of 90 days per patient | 
| Escherichia - Shigella | describe the microbiome at the genus level | during the hospitalization of each eligible patient, an average of 90 days per patient | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| chimerism | The level of chimerism of each patient will be reported as percentages [0,100%] | during the hospitalization of each eligible patient, an average of 90 days per patient | 
| manifestation of graft-versus-host disease | describe the graft-versus-host disease happened to each patient | during the hospitalization of each eligible patient, an average of 90 days per patient | 
| Sobs indices | describe the the observed richness of each sample | during the hospitalization of each eligible patient, an average of 90 days per patient | 
| Chao1 estimator | describe the operational taxonomic unit(OTU) numbers of each sample | during the hospitalization of each eligible patient, an average of 90 days per patient | 
| neutrophil cell count | blood test results | during the hospitalization of each eligible patient, an average of 90 days per patient | 
| platelet count | blood test results | during the hospitalization of each eligible patient, an average of 90 days per patient | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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interleukin 10 receptor alpha gene