Immune DeficiencyNCT06332196
Immunodeficiency and Cancer: Identification of Congenital Immune System Defects Underlying Paediatric Lymphomas
A study testing Analysis of biological sample and clinical data in people with Immune Deficiency, run by Meyer Children's Hospital IRCCS at 4 sites in Italy.
Trial summary
Inborn Errors of Immunity (IEI) are a heterogeneous group of disorders characterised not only by an infectious diathesis, but by a wide variety of other clinical manifestations. Lymphoma is one of the most common malignancies in children and may be the first clinical manifestation of IEI, thereby 'hiding' the immune… Read more about this study
- Who is it for?
- Ages 1 day to 24 years
- Conditions the study is for
- Immune Deficiency
- What is being tested?
- Analysis of biological sample and clinical data
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 50 participants
- Where
- 4 sitesItaly
- Study dates
- 18 Oct 2023to 18 Oct 2025
- Phase
- Interventional
- Are there results?
- None posted in the registry
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 1 day to 24 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- Patients with a clinical diagnosis of Hodgkin's lymphoma (HL) or non-Hodgkin's lymphoma (NEIL) with or without signs of immune dysregulation (lymphoproliferation, autoimmunity, hypogammaglobulinaemia, family history of immunodeficiency).
- Patients with previous HL or NEIL lymphoma who have developed, concomitantly with the tumour or subsequently, clinical manifestations mentioned above attributable to a congenital defect of immunity.
Who cannot join
- Patients with known genetic diseases, or who do not consent to participate in the study
Trial locations and contacts
4 sites in 1 country.
Italy4 sites, 1 recruiting
- Active, not recruiting
AOU Malpighi IRCCS
Bologna
- Recruiting
Meyer Children's Hospital IRCCS
Florence
Eleonora Gambineri, eleonora.gambineri@meyer.it
- Active, not recruiting
AOU Pisana
Pisa
- Active, not recruiting
Ospedale Pediatrico Bambin Gesù IRCCS
Roma
About this study
Inborn Errors of Immunity (IEI) are a heterogeneous group of disorders characterised not only by an infectious diathesis, but by a wide variety of other clinical manifestations. Lymphoma is one of the most common malignancies in children and may be the first clinical manifestation of IEI, thereby 'hiding' the immune defect and delaying genetic/immunological diagnosis. Lymphomas, especially non-Hodgkin's lymphomas (NHL) are frequently associated with congenital defects of the immune system, in particular diffuse large B-cell lymphoma and Burkitt's lymphoma. Preliminary analyses conducted on 6 patients diagnosed with NHL allowed the identification of genetic variants in genes associated with IEI. In clinical practice, the diagnosis and choice of therapeutic treatment in patients with immunodeficiency-associated lymphoma are decisive and, due to the complex pathophysiology of the disease, it is not always possible to identify the boundary between benign and malignant proliferation. The identification of an undiagnosed immunodeficiency in patients with lymphoma will ensure the opportunity to apply targeted therapies, such as allogeneic haematopoietic stem cell transplantation, instead of standard clinical management based mainly on chemotherapy. The study aims to identify possible congenital defects of immunity, i.e. genetic disorders affecting the immune system, as responsible for the development of haematological malignancies. Through a multidisciplinary approach involving immunological analyses, genetic analyses and a thorough examination of clinical manifestations, we aim to characterise the immunological component underlying the development of paediatric lymphomas.
- Conditions
- Immune Deficiency
- Being tested
- Analysis of biological sample and clinical data
- Medical subject headings
- Immunologic Deficiency Syndromes
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Analysis of biological sample and clinical dataOther
Analysis of biological sample and clinical data
| Study group | Role | What they receive |
|---|---|---|
| Patient with Hodgkin's lymphoma (HL) or non-Hodgkin's lymphoma (NEIL) | Other | Patient with Hodgkin's lymphoma (HL) or non-Hodgkin's lymphoma (NEIL) Receives: Other: Analysis of biological sample and clinical data |
What is being measured
The primary outcome is the main question the study is designed to answer.
To unravel inborn error of immunity behind Lymphoid neoplasm in children
Characterizing the role of the immune system in the pathogenesis of polyclonal and clonal lymphoproliferation. In particular, the main aim of our study will be the identification, by means of second-generation genetic analysis and functional validation studies of the identified variants, of congenital immune system defects in patients with lymphoid neoplasia
Measured: Through study completion, an average of 1 year
Secondary outcomes (1)
Identification of lymphoma-specific biomarkers
Investigating Cell-Free DNA for specific molecular alterations in lymphomas, in order to monitor the follow-up of patients affected by lymphoma and to identify early onset of clonality in patients with already diagnosed congenital defects of the immune system at risk of developing malignant lymphoproliferation.
Measured: Through study completion, an average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Mar 2024
- Study start18 Oct 2023
- Primary completion18 Jun 2025 (estimated)
- Study completion18 Oct 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Immune DeficiencyStudies of the same condition, open and under way.
- More trials run by Meyer Children's Hospital IRCCSThe 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Patients diagnosed with non-Hodgkin's lymphoma (NHL) or Hodgkin's lymphoma (HL) aged and patients with previous lymphoma and signs of immunodeficiency
- Masking
- None (open label)
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Meyer Children's Hospital IRCCS
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Eleonora Gambineri, Meyer Children's Hospital IRCCS
- Investigators
- Eleonora Gambineri, Principal investigator, Meyer Children's Hospital IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06332196
- Sponsor's protocol ID
- L-IEI
- Status last verified
- Mar 2024
- First submitted
- 24 Feb 2024
- Last updated
- 27 Mar 2024
- 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 27 Mar 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Immunodeficiency and Cancer: Identification of Congenital Immune System Defects Underlying Paediatric Lymphomas
- ClinicalTrials.gov ID
- NCT06332196
- Acronym / sponsor ID
- L-IEI
- Conditions
- Immune Deficiency
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Meyer Children's Hospital IRCCSUniversity, hospital or other
- Study start
- 18 Oct 2023 (actual)
- Primary completion
- 18 Jun 2025 (estimated)
- Study completion
- 18 Oct 2025 (estimated)
- First posted
- 27 Mar 2024 (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.
Inborn Errors of Immunity (IEI) are a heterogeneous group of disorders characterised not only by an infectious diathesis, but by a wide variety of other clinical manifestations. Lymphoma is one of the most common malignancies in children and may be the first clinical manifestation of IEI, thereby 'hiding' the immune defect and delaying genetic/immunological diagnosis. Lymphomas, especially non-Hodgkin's lymphomas (NHL) are frequently associated with congenital defects of the immune system, in particular diffuse large B-cell lymphoma and Burkitt's lymphoma. Preliminary analyses conducted on 6 patients diagnosed with NHL allowed the identification of genetic variants in genes associated with IEI. In clinical practice, the diagnosis and choice of therapeutic treatment in patients with immunodeficiency-associated lymphoma are decisive and, due to the complex pathophysiology of the disease, it is not always possible to identify the boundary between benign and malignant proliferation. The identification of an undiagnosed immunodeficiency in patients with lymphoma will ensure the opportunity to apply targeted therapies, such as allogeneic haematopoietic stem cell transplantation, instead of standard clinical management based mainly on chemotherapy. The study aims to identify possible congenital defects of immunity, i.e. genetic disorders affecting the immune system, as responsible for the development of haematological malignancies. Through a multidisciplinary approach involving immunological analyses, genetic analyses and a thorough examination of clinical manifestations, we aim to characterise the immunological component underlying the development of paediatric lymphomas.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Patients diagnosed with non-Hodgkin's lymphoma (NHL) or Hodgkin's lymphoma (HL) aged and patients with previous lymphoma and signs of immunodeficiency
| Arm | Type | Receives |
|---|---|---|
| Patient with Hodgkin's lymphoma (HL) or non-Hodgkin's lymphoma (NEIL) | Other | Other: Analysis of biological sample and clinical dataPatient with Hodgkin's lymphoma (HL) or non-Hodgkin's lymphoma (NEIL) |
Who may qualify
- Ages
- 1 day to 24 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (2 listed)
- Patients with a clinical diagnosis of Hodgkin's lymphoma (HL) or non-Hodgkin's lymphoma (NEIL) with or without signs of immune dysregulation (lymphoproliferation, autoimmunity, hypogammaglobulinaemia, family history of immunodeficiency).
- Patients with previous HL or NEIL lymphoma who have developed, concomitantly with the tumour or subsequently, clinical manifestations mentioned above attributable to a congenital defect of immunity.
Key exclusion criteria (1 listed)
- Patients with known genetic diseases, or who do not consent to participate in the study
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 |
|---|---|---|
| Analysis of biological sample and clinical dataAnalysis of biological sample and clinical data | Other | Patient with Hodgkin's lymphoma (HL) or non-Hodgkin's lymphoma (NEIL) |
Primary outcome
To unravel inborn error of immunity behind Lymphoid neoplasm in children
Time frame: Through study completion, an average of 1 year
Characterizing the role of the immune system in the pathogenesis of polyclonal and clonal lymphoproliferation. In particular, the main aim of our study will be the identification, by means of second-generation genetic analysis and functional validation studies of the identified variants, of congenital immune system defects in patients with lymphoid neoplasia
1 secondary outcome
Identification of lymphoma-specific biomarkers
Time frame: Through study completion, an average of 1 year
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Mar 2024.
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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. This study is not recruiting at the moment.
Eleonora Gambineri principal investigator
Meyer Children's Hospital IRCCS
4 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Analysis of biological sample and clinical data in people with Immune Deficiency, run by Meyer Children's Hospital IRCCS at 4 sites 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 2 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: status not confirmed, as of the sponsor's last update on 27 Mar 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Eleonora Gambineri (0555662624, eleonora.gambineri@meyer.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To unravel inborn error of immunity behind Lymphoid neoplasm in children (time frame: Through study completion, an average of 1 year). 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 27 Mar 2024.