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

NCT06773546 | Recruiting

• 1 other identifier: ID-TYPE
• Study Type: observational
• Target: 400
• Locations: 1 country
• Sites: 1

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.

Conditions

Inborn Errors of Immunity

Keywords

Inborn errors of immunity

Outcome Measures

Primary Outcomes (5)

• Category of diagnsoed Inborn Error of Immunity

  categories I to X

  at baseline

• Qualitative or quantitative alterations in innate immunity and/or adaptive immunity

  presence or absence of alterations

  at baseline

• Infective susceptibility

  presence of one of the following conditions: invasive, severe, persistent, recurrent, opportunistic and/or vaccine strain infections

  at baseline and every 6 months up to 1 year

• Immunodisregulation

  presence of at least one disorder among atopy, hyperinflammation, autoimmunity, non-clonal lymphoproliferation and/or malignant neoplasms

  at baseline and every 6 months up to 1 year

• Mortality

  time-to-event from diagnosis of Inborn Errors of Immunity up to 1 year

  1 year after diagnosis of Inborn Errors of Immunity

Eligibility Criteria

• Age: Up to 50 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Patients with confirmed or suspected Inborn Errors of Immunity, in particular patients with an immunodysregulated condition (autoimmunity, allergy, hyperinflammation and non-clonal lymphoproliferation, susceptibility to the development of malignant neoplasms) aged \< 50 years at onset of clinical features suspected for Inborn Errors of Immunity, who referred to the Pediatrics Unit of the IRCCS Azienda Ospedaliero-Universitaria di Bologna Policlinico di Sant'Orsola, Italy.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• IRCCS Azienda Ospedaliero-Universitaria di Bologna: lead

Study Sites (1)

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Bologna, Bolgona, 40138, Italy

RECRUITING

Study Officials

• Francesca Conti, MD

  IRCCS Azienda Ospedaliero-Universitaria di Bologna

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Francesca Conti

CONTACT

00390512144666; francesca.conti27@unibo.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 3, 2024
• First Posted: January 14, 2025
• Study Start: September 15, 2023
• Primary Completion (Estimated): June 30, 2026
• Study Completion (Estimated): December 31, 2026
• Last Updated: January 14, 2025

Record last verified: 2024-10

Locations

IT (1)