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

National Institute for Mother and Child Health Alessandrescu Rusescu

Status: Enrolling

Conditions: Chronic Granulomatous Disease

Treatments: Diagnostic Test: Genetic testing; Diagnostic Test: Lymphocytes subsets; Diagnostic Test: Phagoburst

Study type: Observational

Funder types: Other

Identifiers

NCT06162936

IBD20232024

Details and patient eligibility

About

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.

Enrollment: 150 estimated patients

Sex: All

Ages: Under 18 years old

Volunteers: No Healthy Volunteers

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

Trial design

150 participants in 2 patient groups

Inflammatory bowel disease patients

Description:

Pediatric patients (under 18 years of age) diagnosed with IBD

Treatment:

Diagnostic Test: Phagoburst

Diagnostic Test: Genetic testing

Diagnostic Test: Lymphocytes subsets

Healthy controls

Description:

Healthy chidren (no chronic disease)

Treatment:

Diagnostic Test: Phagoburst