The Interplay Between Inborn Error of Immunity and Blood Disorders: Unravelling Immune Defects Behind Common Haematological Diseases
NCT ID: NCT06857604
Last Updated: 2025-03-04
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
NA
700 participants
INTERVENTIONAL
2024-11-15
2027-07-31
Brief Summary
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This study aims to fill this gap by prospectively recruiting patients \<25 y/o with haematologic disorders that fall into one of the following 4 subgroups: autoimmune cytopenia (AICs), polyclonal lymphoproliferation (PL), monoclonal (malignant) lymphoproliferation (ML), bone marrow failure/myelodysplasia (BMF/MDS). Recruited subjects will undergo an extensive immunologic workup (extended immunophenotyping, cytokine and autoantibody dosage) together with genetic testing (NGS) to detect both germline and somatic variants. Bulk RNA sequencing will be performed either as functional validation of variants or to identify altered pathways in selected cases with inconclusive genetics. Patient advocacy organisations (PAOs) will be pivotal to assist patients' needs throughout the project and to raise awareness of predictive and yet unknown signs of IEI.
The study involves recruitment a total of almost 700 children over a 3-year period. Considering recent studies on AICs and BMF/MDS, a global detection rate of 30% "hidden" IEI is expected, with higher rates in the AIC subgroup and lower ones for ML, given the complexity of lymphoma pathogenesis. New IEI candidate genes or new examples of IEI phenocopies are expected to be identified.
The immunological workup should detect early disease biomarkers or currently unknown molecular signatures of specific disorders. These may increase the chance of identifying an IEI in a specific subgroup and promptly address the patient to a targeted treatment or to hematopoietic stem cell transplantation, avoiding late complications, increasing patients' survival, and abating the economic burden of the disease on healthcare services. Finally, involvement of PAOs may foster patients' knowledge about their condition, increasing their compliance to disease follow-up and treatment and ameliorating their quality of life.
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Detailed Description
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Conditions
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Study Design
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NA
SINGLE_GROUP
DIAGNOSTIC
NONE
Study Groups
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Patients with Haematological Disorders
Patients with diagnosed autoimmune cytopenias (AIC), polyclonal lymphoproliferation (PL), lymphoma (ML), bone marrow failure, and myelodysplastic syndrome (BMF/MDS)
Biological samples
Immunological Screening and Genetic analysis
Interventions
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Biological samples
Immunological Screening and Genetic analysis
Eligibility Criteria
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Inclusion Criteria
2. Patients with diagnosed autoimmune cytopenias (AIC), polyclonal lymphoproliferation (PL), lymphoma (ML), bone marrow failure, and myelodysplastic syndrome (BMF/MDS) (see details below)
3. Signed Informed Consent
Exclusion Criteria
2. Patient with self-resolving or post-infective AICs
25 Years
ALL
No
Sponsors
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Meyer Children's Hospital IRCCS
OTHER
Responsible Party
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Eleonora Gambineri
Medical Doctor
Locations
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CHU Sainte-Justine
Montreal, Canada, Canada
CHU Sainte-Justine
Montreal, Canada, Canada
Institut Imagine
Paris, France, France
Meyer Children's Hospital IRCCS, Firenze
Florence, Fi, Italy
University of Rome Tor Vergata
Rome, Italy, Italy
Vall d'Hebron Institut de Recerca
Barcelona, , Spain
Karolinska Institutet
Stockholm, Sweden, Sweden
Countries
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Central Contacts
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Facility Contacts
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Other Identifiers
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IEI-Haem
Identifier Type: -
Identifier Source: org_study_id
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