Extended phenotyping
OtherExtended phenotyping (analysis performed at Nantes University Hospital, MANDATORY DELIVERY WITHIN 24 HOURS) = 1 EDTA 3 mL tube for patients included in Nantes.
NCT Number: NCT07111793
Severe bacterial infections (SBI) are responsible for significant morbidity and mortality in the paediatric population. There is considerable individual variability in children's susceptibility to developing SBIs. This variability is multifactorial, and the mechanisms at work are not yet fully understood. The investigators of this study therefore propose to study a population of children who had particularly severe bacterial infections requiring hospitalization in a pediatric intensive care unit in France between 2015 and 2018. This study is part of a global approach to understanding the mechanisms favoring the occurrence of IBS in pediatrics.
The study will initially focus on analyzing the clinical phenotype of these children in terms of the type of infection presented, as well as immunologically with an immune workup of all these patients. The investigators also plan to contact each family individually to identify other episodes of personal or family IBS or other elements suggestive of immune deficiency (opportunistic infections, autoimmune manifestations, severe atopy). The investigators will also assess the persistent sequelae since their infectious episode, and their quality of life following this IBS.
In parallel, the genetic analysis of these patients and their parents will be carried out using whole-exome sequencing. The investigators will compare the results with those obtained in 2 IBS-free control populations (N=70 and N=116). The goal is to identify genetic variants that favor the occurrence of IBS in general, and some that are specific to certain bacteria or clinical presentations.
Interested in participating?
Request InfoAll sexes
Interventional
Not applicable
Nantes University Hospital, Nantes, Loire Atlantique, France
Healthy volunteers accepted: No
Only the study team can determine whether someone qualifies for participation.
Inclusion criteria
For patients:
For parents:
Exclusion criteria
Extended phenotyping (analysis performed at Nantes University Hospital, MANDATORY DELIVERY WITHIN 24 HOURS) = 1 EDTA 3 mL tube for patients included in Nantes.
Blood sample for WES : 1 x 3 mL EDTA tube (if not included in DIABACT IV biocollection)
Blood sample for PBMC freezing integrated into the biocollection: 1 EDTA tube = 3 mL
Assessment of POPC score (Pediatric Overall Performance Category)
Questionnaires completed by parents or children:
Time frame: At the enrollment
List of rare genetic variants significantly more frequently found in cases than in controls and/or absent in healthy parents.
Time frame: At the enrollment
Time frame: At the enrollment
Time frame: At the enrollment
Time frame: At the enrollment
The POPC sequelae score is a scale from 1 to 6, with 6 being the worst possible outcome.
Time frame: At the enrollment
The SDQ-Fra score is a scale from 0 to 2, with 2 being the worst possible outcome.
Time frame: At the enrollment
Quality of life will be assessed in this patient population using the Pediatric Quality of Life InventoryTM (scale from 0 to 4, with 4 corresponding to the worst outcome).
Contact information is provided by the study sponsor or research team.
Nantes University Hospital
Other
IBSoFACTo : Identification of Clinical, Genetic and Immunological Factors Involved in the Development of Severe Bacterial Infections in Pediatrics
Acronym: IBSoFACTo
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