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

NCT06162936 | Unknown DMC

• 1 other identifier: IBD20232024
• Study Type: observational
• Target: 150
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Chronic Granulomatous Disease

Keywords

inflammatory bowel disease; chronic granulomatous disease; inborn errors of immunity

Outcome Measures

Primary Outcomes (2)

• Oxidative burst activity in IBD patients

  Perform oxidative burst activity in pediatric patients with a definitive diagnosis of IBD and compare them with healthy controls.

  12 months

• Genetic testing in patients with suspicion of IEI

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

  12 months

Secondary Outcomes (1)

• Role of burst activity in disease phenotype

  12 months

Study Arms (2)

Inflammatory bowel disease patients

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

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

Healthy controls

Healthy chidren (no chronic disease)

Diagnostic Test: Phagoburst

Interventions

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.

Healthy controls; Inflammatory bowel disease patients

Lymphocytes subsets DIAGNOSTIC_TEST

To determine lymphocytes subsets in patients with suspicion of IEI

Inflammatory bowel disease patients

Genetic testing DIAGNOSTIC_TEST

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

Inflammatory bowel disease patients

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

The study population will include pediatric patients diagnosed with IBD (right from the diagnosis or anytime during the disease course) from three different gastroenterology units in Bucharest, Romania. Screening tests for an imunological disease (neutrophil oxidative burst, lymphocyte subsets) will be performed in included patients and healthy controls by the home institution.

You may qualify if:

• Subjects:
• age under 18 years;
• confirmed diagnosis of IBD fulfilling standard diagnosis criteria (clinical, radiological, endoscopical, histological features)
• parental/guardian consent for study enrollment
• Controls:
• Healthy age-gender matched controls

You may not qualify if:

• IBD associated to an already defined monogenic defect
• Diagnosis of IBD uncertain
• HIV/TB positive

Sponsors & Collaborators

• National Institute for Mother and Child Health Alessandrescu Rusescu: lead
• Marie Curie Emergency Children's Hospital, Bucharest: collaborator
• Victor Gomoiu Children's Hospital, Bucharest: collaborator

Study Sites (1)

National Institute for Mother and Child Health Alessandrescu Rusescu

Bucharest, County, 041249, Romania

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples

MeSH Terms

Conditions

Granulomatous Disease, Chronic; Inflammatory Bowel Diseases

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Phagocyte Bactericidal Dysfunction; Leukocyte Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immunologic Deficiency Syndromes; Immune System Diseases; Chronic Disease; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Gastroenteritis; Gastrointestinal Diseases; Digestive System Diseases; Intestinal Diseases

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Central Study Contacts

Alexis Virgil Cochino, MD, PhD

CONTACT

+40723193648; alexis_virgil@yahoo.com

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 30, 2023
• First Posted: December 8, 2023
• Study Start: November 1, 2023
• Primary Completion: December 1, 2024
• Study Completion: February 1, 2025
• Last Updated: December 8, 2023

Record last verified: 2023-11

Locations

RO (1)