Clinical trial NCT06773546: Immunodysregulation As an Expression of Underlying Inborn Errors of Immunity: Implementation of Diagnostics and Management of Pediatric and Adult Patients with Immune System Disorders
Official title: Immunodysregulation As an Expression of Underlying Inborn Errors of Immunity: Implementation of Diagnostics and Management of Pediatric and Adult Patients with Immune System Disorders
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Inborn Errors of Immunity
Keywords: Inborn errors of immunity
Lead sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna
Sponsor class: OTHER
First posted: 2025-01-14
Enrollment: 400
Sex: ALL
Maximum age (years): 50
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
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.

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.

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.

Primary outcomes:
measure: Category of diagnsoed Inborn Error of Immunity
timeFrame: at baseline
measure: Qualitative or quantitative alterations in innate immunity and/or adaptive immunity
timeFrame: at baseline
measure: Infective susceptibility
timeFrame: at baseline and every 6 months up to 1 year
measure: Immunodisregulation
timeFrame: at baseline and every 6 months up to 1 year
measure: Mortality
timeFrame: 1 year after diagnosis of Inborn Errors of Immunity
Secondary outcomes:
Other outcomes:
Locations:
city: Bologna
country: Italy
facility: IRCCS Azienda Ospedaliero-Universitaria di Bologna
state: Bolgona
Study officials:
affiliation: IRCCS Azienda Ospedaliero-Universitaria di Bologna
name: Francesca Conti, MD
role: PRINCIPAL_INVESTIGATOR
References: