Genetic and Immunologic Characterization of IEI

April 6, 2023 updated by: IRCCS Burlo Garofolo

Genetic and Immunologic Characterization of Inborn Errors of Immunity

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.

Study Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

156

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Italy
      • Trieste, Italy, 34137
        • IRCCS Materno Infantile Burlo Garofolo

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 18 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Pediatrics subjects with suspected Inborn Errors of Immunity

Description

Inclusion Criteria:

  • Subjects with suspected IEI

Exclusion Criteria:

  • No consent from the patients' guardians
  • Subjects undergoing hematopoietic stem cell transplantation.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
To identify immunologic-functional characteristics of IEI subjects
Time Frame: 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).
Within 30 days of enrollment
To identify genetic characteristics of IEI subjects
Time Frame: Within 30 days of enrollment
Using NGS and exome analysis
Within 30 days of enrollment

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

IRCCS Burlo Garofolo

Investigators

  • Study Director: Alberto Tommasini, MD, IRCCS Materno Infantile Burlo Garofolo

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

December 20, 2018

Primary Completion (Actual)

December 31, 2022

Study Completion (Actual)

December 31, 2022

Study Registration Dates

First Submitted

March 24, 2023

First Submitted That Met QC Criteria

April 6, 2023

First Posted (Actual)

April 7, 2023

Study Record Updates

Last Update Posted (Actual)

April 7, 2023

Last Update Submitted That Met QC Criteria

April 6, 2023

Last Verified

March 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • RC 24/17

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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