Inborn Errors of ImmunityNCT06773546
Immunodysregulation As an Expression of Underlying Inborn Errors of Immunity: Implementation of Diagnostics and Management of Pediatric and Adult Patients with Immune System Disorders
An observational study of Inborn Errors of Immunity, run by IRCCS Azienda Ospedaliero-Universitaria di Bologna at 1 site in Italy.
Trial summary
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. Read more about this study
- Who is it for?
- Ages Up to 50 years
- Conditions the study is for
- Inborn Errors of Immunity
- How many people
- 400 participants
- Where
- 1 siteItaly
- Study dates
- 15 Sep 2023to 31 Dec 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 Up to 50 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Patients with confirmed or suspected Inborn Errors of Immunity, in particular patients with an immunodysregulated condition (autoimmunity, allergy, hyperinflammation and non-clonal lymphoproliferation, susceptibility to the development of malignant neoplasms) aged < 50 years at onset of clinical features suspected for Inborn Errors of Immunity, who referred to the Pediatrics Unit of the IRCCS Azienda Ospedaliero-Universitaria di Bologna Policlinico di Sant'Orsola, Italy.
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Bolgona, 40138
Francesca Conti, 00390512144666, francesca.conti27@unibo.it
Francesca Conti
About this study
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.
Read the detailed description
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.
- Conditions
- Inborn Errors of Immunity
- Keywords
- Inborn errors of immunity
What is being measured
The primary outcome is the main question the study is designed to answer.
Category of diagnsoed Inborn Error of Immunity
categories I to X
Measured: at baseline
Qualitative or quantitative alterations in innate immunity and/or adaptive immunity
presence or absence of alterations
Measured: at baseline
Infective susceptibility
presence of one of the following conditions: invasive, severe, persistent, recurrent, opportunistic and/or vaccine strain infections
Measured: at baseline and every 6 months up to 1 year
Immunodisregulation
presence of at least one disorder among atopy, hyperinflammation, autoimmunity, non-clonal lymphoproliferation and/or malignant neoplasms
Measured: at baseline and every 6 months up to 1 year
Mortality
time-to-event from diagnosis of Inborn Errors of Immunity up to 1 year
Measured: 1 year after diagnosis of Inborn Errors of Immunity
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Jan 2025
- Study start15 Sep 2023
- Primary completion30 Jun 2026 (estimated)
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Inborn Errors of ImmunityStudies of the same condition, open and under way.
- More trials run by IRCCS Azienda Ospedaliero-Universitaria di BolognaThe 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
- Cohort
- Time perspective
- Other
- Enrolment
- 400 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Francesca Conti, MD, Principal investigator, IRCCS Azienda Ospedaliero-Universitaria di Bologna
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06773546
- Sponsor's protocol ID
- ID-TYPE
- Status last verified
- Oct 2024
- First submitted
- 3 Dec 2024
- Last updated
- 14 Jan 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 14 Jan 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Immunodysregulation As an Expression of Underlying Inborn Errors of Immunity: Implementation of Diagnostics and Management of Pediatric and Adult Patients with Immune System Disorders
- ClinicalTrials.gov ID
- NCT06773546
- Acronym / sponsor ID
- ID-TYPE
- Conditions
- Inborn Errors of Immunity
- Keywords
- Inborn errors of immunity
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 400 participants (estimated)
- Lead sponsor
- IRCCS Azienda Ospedaliero-Universitaria di BolognaUniversity, hospital or other
- Study start
- 15 Sep 2023 (actual)
- Primary completion
- 30 Jun 2026 (estimated)
- Study completion
- 31 Dec 2026 (estimated)
- First posted
- 14 Jan 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.
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.
Detailed description
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.
Study design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Ages
- Up to 50 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Patients with confirmed or suspected Inborn Errors of Immunity, in particular patients with an immunodysregulated condition (autoimmunity, allergy, hyperinflammation and non-clonal lymphoproliferation, susceptibility to the development of malignant neoplasms) aged < 50 years at onset of clinical features suspected for Inborn Errors of Immunity, who referred to the Pediatrics Unit of the IRCCS Azienda Ospedaliero-Universitaria di Bologna Policlinico di Sant'Orsola, Italy.
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (1 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Category of diagnsoed Inborn Error of Immunity
Time frame: at baseline
categories I to X
Qualitative or quantitative alterations in innate immunity and/or adaptive immunity
Time frame: at baseline
presence or absence of alterations
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
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
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
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 14 Jan 2025.
Related trials for Inborn Errors of Immunity
RecruitingObservational study
NIAID Centralized Sequencing Protocol
Atopy, Primary Immunodeficiency
RecruitingObservational study
Immune Regulation in Patients With Common Variable Immunodeficiency and Related Inborn Errors of Immunity (IEI)
XLA, CVID
RecruitingObservational study
The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
Oxidative Phosphorylation Deficiencies, Electron Transport Chain Disorders, Mitochondrial
RecruitingPhase 2
Allogeneic Hematopoietic Stem Cell Transplant for Patients With Inborn Errors of Immunity
Lymphoproliferative Disorders, Autoimmune Lymphoproliferative
Recruiting
Identification of Clinical, Genetic and Immunological Factors Involved in the Development of Severe Bacterial Infections in Pediatrics
Severe Bacterial Infections
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.
Francesca Conti, MD principal investigator
IRCCS Azienda Ospedaliero-Universitaria di Bologna
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Inborn Errors of Immunity, run by IRCCS Azienda Ospedaliero-Universitaria di Bologna at 1 site in Italy.
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 3 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: looking for participants now, as of the sponsor's last update on 14 Jan 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
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 Francesca Conti (00390512144666, francesca.conti27@unibo.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Category of diagnsoed Inborn Error of Immunity (time frame: at baseline). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 14 Jan 2025.