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Genetic and Immunologic Characterization of IEI

Sponsor
IRCCS Burlo Garofolo (Other)
Overall Status
Completed
CT.gov ID
NCT05803356
Collaborator
(none)
156
Enrollment
1
Location
48.4
Actual Duration (Months)
3.2
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

Inborn Errors of Immunity (IEI) include clinically heterogeneous rare genetic diseases depending on mutations in about 300 different genes. Clinically, this group of diseases is characterized by the presence of infectious, inflammatory, autoimmune, and lymphoproliferative symptoms. Understanding the pathogenesis of these diseases can guide the implementation of targeted therapies and improve prognosis.

In recent years, IEI have been described that do not necessarily present with repeated infectious symptoms but rather with autoimmune, lymphoproliferative, and autoinflammatory manifestations, or with forms of immunodeficiency with a spectrum of susceptibility to one or few infectious agents. In this case, simple laboratory tests are not sufficient to characterize the disease since no particular immunophenotypic changes are evident. To correct classify the patients and to improve knowledge on the pathogenesis of the diseases, complex immunologic-functional studies are required. These studies should be started prior to genetic analysis, with the aim of targeting and narrowing it down. Although the ever-decreasing costs of Next Generation Sequencing (NGS) methods make it convenient to analyse many genes or even the entire exome simultaneously, the analysis of the data resulting from NGS can be complex and provide results of uncertain interpretation. In these cases, immunologic-functional studies can clarify the real causal role of the identified genetic variants.

The identification of genotype-phenotype correlation is crucial to establish new therapeutic targets for diseases orphan of specific etiological treatments. In vitro and in vivo disease models are key tools to test drugs repositioning, as was the case for Lapaquistat in the treatment of periodic fevers caused by de-regulation of the cholesterol metabolic pathway.

Condition or Disease Intervention/Treatment Phase

    Study Design

    Study Type:
    Observational
    Actual Enrollment :
    156 participants
    Observational Model:
    Other
    Time Perspective:
    Prospective
    Official Title:
    Genetic and Immunologic Characterization of Inborn Errors of Immunity
    Actual Study Start Date :
    Dec 20, 2018
    Actual Primary Completion Date :
    Dec 31, 2022
    Actual Study Completion Date :
    Dec 31, 2022

    Outcome Measures

    Primary Outcome Measures

    1. To identify immunologic-functional characteristics of IEI subjects [Within 30 days of enrollment]

      Several test will be carried out on peripheral blood samples (i.e.,evaluation of lymphocyte subpopulations, natural killer cell degranulation assay, intracellular protein expression analysis, interferon signature in real time PCR).

    2. To identify genetic characteristics of IEI subjects [Within 30 days of enrollment]

      Using NGS and exome analysis

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A to 18 Years
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    Inclusion Criteria:
    • Subjects with suspected IEI
    Exclusion Criteria:

    • No consent from the patients' guardians

    • Subjects undergoing hematopoietic stem cell transplantation.

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 IRCCS materno infantile Burlo Garofolo Trieste Italy 34137

    Sponsors and Collaborators

    • IRCCS Burlo Garofolo

    Investigators

    • Study Director: Alberto Tommasini, MD, IRCCS materno infantile Burlo Garofolo

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    IRCCS Burlo Garofolo
    ClinicalTrials.gov Identifier:
    NCT05803356
    Other Study ID Numbers:
    • RC 24/17
    First Posted:
    Apr 7, 2023
    Last Update Posted:
    Apr 7, 2023
    Last Verified:
    Mar 1, 2023
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Keywords provided by IRCCS Burlo Garofolo
    inborn errors of immunity
    genotype-phenotype correlation
    drugs repositioning
    genetics
    Additional relevant MeSH terms:
    Immune System Diseases

    Study Results

    No Results Posted as of Apr 7, 2023