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

NCT ID: NCT06162936

Last Updated: 2023-12-08

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

150 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-11-01

Study Completion Date

2025-02-28

Brief Summary

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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.

Detailed Description

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Conditions

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Chronic Granulomatous Disease

Keywords

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inflammatory bowel disease chronic granulomatous disease inborn errors of immunity

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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Inflammatory bowel disease patients

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

Phagoburst

Intervention Type 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

Intervention Type DIAGNOSTIC_TEST

To determine lymphocytes subsets in patients with suspicion of IEI

Genetic testing

Intervention Type DIAGNOSTIC_TEST

Perform targeted genetic testing in those with reduced to absent oxidative activity in search of PIDs and susceptibility variants

Healthy controls

Healthy chidren (no chronic disease)

Phagoburst

Intervention Type 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.

Interventions

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Phagoburst

The main objective is to perform oxidative burst activity in pediatric patients with a definitive diagnosis of IBD and compare them with healthy controls.

Intervention Type DIAGNOSTIC_TEST

Lymphocytes subsets

To determine lymphocytes subsets in patients with suspicion of IEI

Intervention Type DIAGNOSTIC_TEST

Genetic testing

Perform targeted genetic testing in those with reduced to absent oxidative activity in search of PIDs and susceptibility variants

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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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
Maximum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Marie Curie Emergency Children's Hospital, Bucharest

UNKNOWN

Sponsor Role collaborator

Victor Gomoiu Children's Hospital, Bucharest

UNKNOWN

Sponsor Role collaborator

National Institute for Mother and Child Health Alessandrescu Rusescu

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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National Institute for Mother and Child Health Alessandrescu Rusescu

Bucharest, County, Romania

Site Status RECRUITING

Countries

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Romania

Central Contacts

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Alexis Virgil Cochino, MD, PhD

Role: CONTACT

Phone: +40723193648

Email: [email protected]

Facility Contacts

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Alexis Virgil Cochino, MD, PhD

Role: primary

I

Role: backup

Other Identifiers

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IBD20232024

Identifier Type: -

Identifier Source: org_study_id