Neutrophil Oxidative Burst in Early and Late Onset Pediatric Inflammatory Bowel Disease

NCT06162936 — Unknown, 150 participants, National Institute for Mother and Child Health Alessandrescu Rusescu

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Registry	NCT06162936
Status	Unknown
Study type	Observational
Enrollment	150 (Estimated)
Sponsor	National Institute for Mother and Child Health Alessandrescu Rusescu (Other); collaborators: Marie Curie Emergency Children's Hospital, Bucharest, Victor Gomoiu Children's Hospital, Bucharest
Conditions	Chronic Granulomatous Disease
Interventions	Phagoburst, Lymphocytes subsets, Genetic testing (Diagnostic test)
Dates	start 2023-11-01, primary completion 2024-12-01 (estimated), completion 2025-02-01 (estimated), first posted 2023-12-08, last updated 2023-12-08
Locations	1 site in Romania

-Summary

ABSTRACT Introduction Residual or absent oxidase function in peripheral neutrophils may point to an inborn defect of neutrophil function - chronic granulomatous disease (CGD) - whereas low to normal oxidative burst capacity has been linked to variants in various members of the NADPH-complex.

Aims To assess the clinical value of routinely measuring oxidative burst activity of granulocytes in pediatric patients diagnosed with very early onset IBD (VEO-IBD) and late onset IBD.

Objectives To investigate possible correlations between neutrophil function and IBD disease activity and to inquire the presence of genetic variants in those with low to absent oxidative burst. To identify the rate of monogenic VEO-IBD in our cohort.

Materials and Methods The proposal constitutes a collaborative effort among Romanian pediatric tertiary care centers to examine the value of assessing neutrophil function in all pediatric IBD patients. Children aged <18 years diagnosed with Crohn's disease, ulcerative colitis or IBD-undetermined and age-matched healthy controls are recruited. A DHR flow cytometry assay is performed in included subjects and controls. Reduced or absent burst activity will lead to genetic testing in search of overt immunodeficiency or susceptibility variants. All VEO-IBD patients will have an immunological work-up in search of a primary immunodeficiency.

Expected Results We anticipate to include a number of 150 pediatric patients with IBD over 12 months from the three pediatric gastroenterology units in Bucharest, Romania. We expect to identify an overall diminished neutrophil function in IBD patients versus controls and possible variants in the NADPH-complex genes.

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+Arms and interventions

Arm	Type	Interventions	Description
Inflammatory bowel disease patients		Diagnostic Test: Phagoburst; Diagnostic Test: Lymphocytes subsets; Diagnostic Test: Genetic testing	Pediatric patients (under 18 years of age) diagnosed with IBD
Healthy controls		Diagnostic Test: Phagoburst	Healthy chidren (no chronic disease)

Phagoburst (Diagnostic test): The main objective is to perform oxidative burst activity in pediatric patients with a definitive diagnosis of IBD and compare them with healthy controls.
Lymphocytes subsets (Diagnostic test): To determine lymphocytes subsets in patients with suspicion of IEI
Genetic testing (Diagnostic test): Perform targeted genetic testing in those with reduced to absent oxidative activity in search of PIDs and susceptibility variants

+Outcome measures

Primary outcomes

Oxidative burst activity in IBD patients [12 months]: Perform oxidative burst activity in pediatric patients with a definitive diagnosis of IBD and compare them with healthy controls.
Genetic testing in patients with suspicion of IEI [12 months]: Perform targeted genetic testing in those with reduced to absent oxidative activity in search of PIDs and susceptibility variants

Secondary outcomes

Role of burst activity in disease phenotype [12 months]: Find correlations between burst activity and disease activity

+Eligibility

Sex: All, ages: any to 18 Years

Inclusion Criteria:

Subjects:

1. age under 18 years;
2. confirmed diagnosis of IBD fulfilling standard diagnosis criteria (clinical, radiological, endoscopical, histological features)
3. parental/guardian consent for study enrollment

Controls:

Healthy age-gender matched controls

Exclusion Criteria:

1. IBD associated to an already defined monogenic defect
2. Diagnosis of IBD uncertain
3. HIV/TB positive

+Locations (1)

Facility	City	Country	Status
National Institute for Mother and Child Health Alessandrescu Rusescu	Bucharest, County	Romania	Recruiting