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NCT Number: 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

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.

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Key information

Conditions

Inborn Errors of Immunity

Age range

Up to 50 year

Sex eligibility

All sexes

Study type

Observational

Primary location

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Bologna, Bolgona, 40138, Italy

Location status: Recruiting

Location contact

Francesca Conti

CONTACT

[email protected]

00390512144666

Francesca Conti

CONTACT

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. Category of diagnsoed Inborn Error of Immunity

    Time frame: at baseline

    categories I to X

  2. Qualitative or quantitative alterations in innate immunity and/or adaptive immunity

    Time frame: at baseline

    presence or absence of alterations

  3. Infective susceptibility

    Time frame: at baseline and every 6 months up to 1 year

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

  4. Immunodisregulation

    Time frame: at baseline and every 6 months up to 1 year

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

  5. Mortality

    Time frame: 1 year after diagnosis of Inborn Errors of Immunity

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

Study contacts

Contact information is provided by the study sponsor or research team.

Francesca Conti

CONTACT

[email protected]

00390512144666

Sponsors and collaborators

Lead sponsor

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Other

Registry information

Important dates

Study start
2023
Primary completion
2026
Study completion
2026
First posted
Jan 14, 2025
Registry last updated
Jan 14, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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