Primary ImmunodeficiencyNCT07262047
Quality of Life Among Children With Inborn Error of Immunity
An observational study of Primary Immunodeficiency, run by Sohag University.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 6 to 18 years
- Conditions the study is for
- Primary Immunodeficiency
- What is being tested?
- Quality of Life Assessment
- How many people
- 50 participants
- Where
- No sites listed yet
- Study dates
- 1 Dec 2025to 10 Oct 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 to 18 years
- All sexes
- Child, Adult
Study population: Children diagnosed with primary immunodeficiency who are followed at participating immunology clinics or hospitals.
Who may be able to join
- children from 6 years untill 18 years
Who cannot join
- failed to get a consent not appropriate age
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
About this study
Official title: 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.
Read the 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.
- Conditions
- Primary Immunodeficiency
- Being tested
- Quality of Life Assessment
- Medical subject headings
- Primary Immunodeficiency Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Quality of Life AssessmentOther
Administration of standardized quality-of-life questionnaires (e.g., PedsQL) to children with primary immunodeficiency and/or their caregivers.
What is being measured
The primary outcome is the main question the study is designed to answer.
Arabic version of PedsQL, version 4
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.
Measured: At enrollment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Dec 2025
- Study start1 Dec 2025 (estimated)
- Primary completion10 Aug 2026 (estimated)
- Study completion10 Oct 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Primary ImmunodeficiencyStudies of the same condition, open and under way.
- More trials run by Sohag UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Retrospective
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Sohag University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Ahmed Mohamed Ali, Sohag University
- Investigators
- eman mohamed fahmy, Study director, Sohag University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07262047
- Sponsor's protocol ID
- Soh-Med-25-9-14MS
- Status last verified
- Nov 2025
- First submitted
- 22 Nov 2025
- Last updated
- 3 Dec 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Bousfiha A, Jeddane L, Al-Herz W, Ailal F, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Franco JL, Gaspar HB, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Picard C, Puck JM, Sullivan KE, Tang ML. The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol. 2015 Nov;35(8):727-38. doi: 10.1007/s10875-015-0198-5. Epub 2015 Oct 7.
PubMed 26445875de Vries E, Driessen G. Educational paper: Primary immunodeficiencies in children: a diagnostic challenge. Eur J Pediatr. 2011 Feb;170(2):169-77. doi: 10.1007/s00431-010-1358-5. Epub 2010 Dec 18.
PubMed 21170549Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Picard C, Puel A, Puck J, Seppanen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2022 Oct;42(7):1473-1507. doi: 10.1007/s10875-022-01289-3. Epub 2022 Jun 24.
PubMed 35748970Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar HB. Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. J Clin Immunol. 2015 Nov;35(8):696-726. doi: 10.1007/s10875-015-0201-1. Epub 2015 Oct 19.
PubMed 26482257
Study at a glance
From the registry record, last updated by the sponsor on 3 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterization and Health Related Quality of Life Among Children With Inborn Error of Immunity
- ClinicalTrials.gov ID
- NCT07262047
- Acronym / sponsor ID
- Soh-Med-25-9-14MS
- Conditions
- Primary Immunodeficiency
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Sohag UniversityUniversity, hospital or other
- Study start
- 1 Dec 2025 (estimated)
- Primary completion
- 10 Aug 2026 (estimated)
- Study completion
- 10 Oct 2026 (estimated)
- First posted
- 3 Dec 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Case-control
- Time perspective
- Retrospective
Who may qualify
- Ages
- 6 to 18 years
- Sex
- All
- Age groups
- Child, Adult
- Study population
- Children diagnosed with primary immunodeficiency who are followed at participating immunology clinics or hospitals.
Key inclusion criteria (1 listed)
- children from 6 years untill 18 years
Key exclusion criteria (1 listed)
- failed to get a consent not appropriate age
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Quality of Life AssessmentAdministration of standardized quality-of-life questionnaires (e.g., PedsQL) to children with primary immunodeficiency and/or their caregivers. | Other | – |
Primary outcome
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Dec 2025.
- Background: PubMed 26445875Bousfiha A, Jeddane L, Al-Herz W, Ailal F, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Franco JL, Gaspar HB, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Picard C, Puck JM, Sullivan KE, Tang ML. The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol. 2015 Nov;35(8):727-38. doi: 10.1007/s10875-015-0198-5. Epub 2015 Oct 7.
- Background: PubMed 21170549de Vries E, Driessen G. Educational paper: Primary immunodeficiencies in children: a diagnostic challenge. Eur J Pediatr. 2011 Feb;170(2):169-77. doi: 10.1007/s00431-010-1358-5. Epub 2010 Dec 18.
- Background: PubMed 35748970Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Picard C, Puel A, Puck J, Seppanen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2022 Oct;42(7):1473-1507. doi: 10.1007/s10875-022-01289-3. Epub 2022 Jun 24.
- Background: PubMed 26482257Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar HB. Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. J Clin Immunol. 2015 Nov;35(8):696-726. doi: 10.1007/s10875-015-0201-1. Epub 2015 Oct 19.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
eman mohamed fahmy study director
Sohag University
Questions about this trial
What is this clinical trial studying?
An observational study of Primary Immunodeficiency, run by Sohag University.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 3 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Ahmed mohamed Ali, principle investigator (20+01120338983, Ahmed_mohammed@med.sohag.edu.eg), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Arabic version of PedsQL, version 4 (time frame: At enrollment). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07262047, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Dec 2025.