Quality of Life Among Children With Inborn Error of Immunity

November 22, 2025 updated by: Ahmed Mohamed Ali, Sohag University

Characterization and Health Related Quality of Life Among Children With Inborn Error of Immunity

In this study, we aim to assess the QOL of pediatric IEI patients compared with healthy controls and to determine different factors affecting QOL in these patients.

Study Overview

Status

Not yet recruiting

Conditions

Intervention / Treatment

Detailed Description

Inborn Errors of Immunity (IEI) are a group of approximately 430 heterogeneous immunity disorders that are characterized by decreased immunity at the innate level involving disorders of phagocytosis and the complement system or at the adaptive level including B-cell, T-cell, or combined immunodeficiencies [1]. Another updated phenotypic classification of IEI suggested by the International Union of Immunological Societies (IUIS) in 2021, identifies 10 categories that include immunodeficiencies affecting cellular and humoral immunity (severe combined immunodeficiency: SCID or combined immunodeficiency), combined immunodeficiencies with associated or syndromic features (such as congenital thrombocytopenia, DNA repair defects, etc.), predominantly antibody deficiencies with recurrent bacterial infections (IgG, IgA, IgM deficiencies), diseases of immune dysregulation and autoinflammatory disorders [2]. The most common of these are the primary antibody deficiencies [3] which include common variable immunodeficiency, IgA, or IgG deficiency, X-linked agammaglobulinemia and other specific antibody deficiencies [1].

Severity of IEI also vary between asymptomatic as in the case of IgA deficiencies to life-threatening forms such as SCID (sever combined immunodeficiencies) [4]. Diagnosed IEI patients are more susceptible to acquiring infections, malignancies, autoimmunity, and lympho-proliferative disorders [5]. Most IEI are diagnosed at an early age but can present later in adulthood. Early detection and management are associated with better outcomes. Hence, screening [6-8] and employing a high level of suspicion is a key factor in improving detection rates of IEI [9]. Newborn screening for treatable and severe forms of IEI is now a common practice in many countries. As for management, the mainstay of treatment for most antibody deficiency is regular intravenous or subcutaneous immunoglobulin therapy [10-11] and bone marrow transplantation for combined immunodeficiencies; these therapies are associated with an improved quality of life (QOL) [12-13].

The burden imposed by IEI on patients is huge and encompasses both physical and emotional consequences especially due to the severity and chronicity of the disorder. Children with IEI have lower health related quality of life (HRQOL) scores [14], and more limitations in physical and social functioning [15-18]. The literature also shows a high disease burden for IEI which includes a higher number of hospitalizations per year, emergency room visits, monthly visits to clinics as well as family monthly expenses related to the disease and absenteeism from school or work [19]. The most widely used tool for assessing HRQOL in pediatric IEI patients is the Pediatric Quality of Life Inventory (PedsQL) which measures 4 domains, which are physical, emotional, social, and school functioning as reported by either parent or child [20]. Several studies assess the QOL of pediatric IEI patients and reveal a poor quality of life that is associated with delayed diagnosis and type of disease. There is a paucity of literature on the QOL of pediatric IEI patients, even though it is more common in upper Egypt where consanguinity is a prevalent occurrence. Therefore, this study is the first to assess the QOL of pediatric IEI patients using the PedsQL questionnaire.

Study Type

Observational

Enrollment (Estimated)

50

Contacts and Locations

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

Study Contact

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

  • Child
  • Adult

Accepts Healthy Volunteers

N/A

Sampling Method

Non-Probability Sample

Study Population

Children diagnosed with primary immunodeficiency who are followed at participating immunology clinics or hospitals.

Description

Inclusion Criteria:

  • children from 6 years untill 18 years

Exclusion Criteria:

  • failed to get a consent not appropriate age

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
Arabic version of PedsQL, version 4
Time Frame: At enrollment
The tool is composed of 23 items that cover the following domains: physical, emotional, social, and school functioning. Each item is on a 5-point Likert scale ranging between 0 and 4 (0= never, 1= almost never, 2= sometimes, 3= often, 4= almost always). Scores are linearly transformed to a 0- to 100- point scale (4 = 0, 3 = 25, 2 = 50, 1 = 75, 0= 100) and higher scores reflect a better HRQOL.
At enrollment

Collaborators and Investigators

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

Sponsor

Sohag University

Investigators

  • Study Director: eman mohamed fahmy, Sohag University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

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 (Estimated)

December 1, 2025

Primary Completion (Estimated)

August 10, 2026

Study Completion (Estimated)

October 10, 2026

Study Registration Dates

First Submitted

November 22, 2025

First Submitted That Met QC Criteria

November 22, 2025

First Posted (Estimated)

December 3, 2025

Study Record Updates

Last Update Posted (Estimated)

December 3, 2025

Last Update Submitted That Met QC Criteria

November 22, 2025

Last Verified

November 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Soh-Med-25-9-14MS

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

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.

Clinical Trials on Primary Immunodeficiency

Clinical Trials on Quality of Life Assessment

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Ukraine

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe