Immunodysregulation As an Expression of Underlying Inborn Errors of Immunity: Implementation of Diagnostics and Management of Pediatric and Adult Patients with Immune System Disorders

NCT ID: NCT06773546

Last Updated: 2025-01-14

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 400 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2023-09-15
• Study Completion Date: 2026-12-31

Brief Summary

This is an observational, retro-prospective, moncentric study focused on Inborn Errors of Immunity, an heterogeneous group of inherited diseases due to defects in the differentiation and/or function of the immune system. The primary aim of this study is to obtain a clinical-immunological, functional and molecular characterisation of paediatric and adult patients with confirmed or suspected Inborn Errors of Immunity, particularly of patients with manifestations of immunedysregulation, focusing on clinical course, immunophenotypic laboratory and functional abnormalities, genetic background.

Detailed Description

Due to the observational nature of the study, patients were and will be treated according to normal clinical practice and in accordance with medical judgement. The following evaluations were performed in the retrospective cohort and will be performed in the prospective cohort:

• Standard haematochemical examinations;
• Extended lymphocyte typing;
• Plasma dosage of immunoglobulins;
• Evaluation of early and late responses to Measles-Parotitis-Rosolia and Diphtheria-Tetanus-Pertussis vaccinations;
• Evaluation of antibody responses to vaccines against Haemophilus Influenzae, Neisseria Meningitidis and Pneumococcus;
• Detection of auto-antibodies on HEp-2 cells, and of auto-antibodies directed against haemopoietic cells and proteins of innate and adaptive immunity;
• Plasma dosage of complement factors (C3, C4);
• Radiological assessment;
• Functional immunological assay;
• Molecular-genetic investigations of targeted gene panels involved in immunodysregulation and Inborn Errors of Immunity.

Conditions

Inborn Errors of Immunity

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: OTHER

Eligibility Criteria

Inclusion Criteria

• patients with confirmed or suspected Inborn Errors of Immunity;
• age < 50 years at onset of clinical features suspected for Inborn Errors of Immunity;
• obtaining informed consent from patients or parents/legal guardian of pediatric patients.

Exclusion Criteria

• patients in whom infectious susceptibility and immunodysregulation can only be attributed to known non-immunological causes: acquired immunodeficiency secondary to chronic infections (HIV), and acquired immunodeficiency secondary to immunosuppressive treatment.

• Maximum Eligible Age: 50 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

IRCCS Azienda Ospedaliero-Universitaria di Bologna

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Francesca Conti, MD

Role: PRINCIPAL_INVESTIGATOR

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Locations

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Bologna, Bolgona, Italy

Site Status: RECRUITING

Countries

Italy

Central Contacts

Francesca Conti

Role: CONTACT

francesca.conti27@unibo.it

00390512144666

Facility Contacts

Francesca Conti

Role: primary

francesca.conti27@unibo.it

00390512144666

Francesca Conti

Role: backup

Other Identifiers

ID-TYPE

Identifier Type: -

Identifier Source: org_study_id