Autoimmune Hemolytic Anemia, Immune Thrombocytopenia, Chronic Idiopathic Neutropenia, Autoimmune Neutropenia, Myelodysplastic Syndromes, Cold Agglutinin Disease
Conditions
Keywords
autoimmune hemolytic anemia, immune thrombocytopenia, chronic idiopathic neutropenia, autoimmune neutropenia, cold agglutinin disease, myelodysplastic syndromes, rituximab, thrombopoietin receptor agonists, erythropoietin, steroids, splenectomy, red cell metabolism, cytokines, luspatercept, microbiome, single cell analysis, next generation sequencing
Brief summary
The goal of this observational study is to characterize the diagnostic and therapeutic management of autoimmune cytopenias including autoimmune hemolytic anemia, immune thrombocytopenia, and chronic idiopathic/autoimmune neutropenia. The main aims to answer are: * evaluation of traditional and novel diagnostic tools including immunohematology, cytokine essays, bone marrow studies, molecular findings, and fecal microbiome. * evaluation of type and sequence of the therapies administered, the response rates, and the adverse events. * evaluation of clinical and laboratory (immunologic, molecular, and morphologic) predictors of outcome. * evolution of autoimmune cytopenias into myelodysplastic syndromes. * a subgroup of patients with myelodysplastic syndromes will be included to evaluate the presence of immunologic events, autoimmune activation, and red cell metabolism. Participants will receive a clinical/laboratory diagnostic workup as per current clinical practice. Furthermore They will be sampled at baseline (peripheral blood and feces for microbiome) and followed up for at least 3 years to evaluate their clinical course, therapeutic management and outcome.
Detailed description
This observational study will characterize the diagnostic and therapeutic management of autoimmune cytopenias including autoimmune hemolytic anemia, immune thrombocytopenia, and chronic idiopathic/autoimmune neutropenia to evaluate predictors of outcome. Additionally, a subgroup of patients with myelodysplastic syndromes (diagnosed according to current WHO 5th edition 2022) will be included to evaluate the presence of autoimmune activation, and red cell metabolism.
Interventions
BIOLOGICALcytokine essays
evaluation of immunomodulatory cytokines by ELISA kits on peripheral blood samples
BIOLOGICALNGS
evaluation of somatic mutations commonly associated with myeloid neoplasm and immunodeficiencies by next generation sequencing on peripheral blood samples
BIOLOGICALFecal microbiome
evaluation of fecal microbiome on fecal samples
DRUGErythropoietin
evaluation of recombinant erythropoietin use, safety and efficacy in patients with autoimmune hemolytic anemia according to clinical practice
DRUGLuspatercept
evaluation of cytokine levels, molecular profile and bone marrow microenvironment by single cell analysis in patients treated with luspatercept according to clinical practice
evaluation of TPO-RA use, safety and efficacy in patients with ITP according to clinical practice
DRUGG-CSF
evaluation of G-CSF use, safety and efficacy in patients with CIN/AIN according to clinical practice
Sponsors
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Diagnosis of autoimmune cytopenias (AIHA/ITP/CIN/AIN) * age \>/= 18 years * ability to sign informed consent * availability to undergo 3 year follow up * for the subgroup of patients with myelodysplastic syndrome: bone marrow evaluation showing \>/= 10% dysplastic features of at least one lineage along with MDS defining cytopenia and/or MDS defining cytogenetics.
Exclusion criteria
* any condition impeding the acquisition of the informed consent * immune cytopenia diagnosis preceding \>/= 6 months the enrolment
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| sensitivity of autoantibody testing in autoimmune cytopenias | 2021-2026 | to define the sensitivity of autoantibody testing in autoimmune cytopenias |
| specificity of autoantibody testing in autoimmune cytopenias | 2021-2026 | to define the specificity of autoantibody testing in autoimmune cytopenias |
| sensitivity of bone marrow trephine in autoimmune cytopenias | 2021-2026 | to define the sensitivity of bone marrow trephine in autoimmune cytopenias |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Evaluation of microbiome | 2021-2026 | to define microbiome composition in autoimmune cytopenias and myelodysplastic syndromes |
| overall response rate | 2021-2026 | to define response rates to treatment of autoimmune cytopenias and myelodysplastic syndromes |
| Evaluation of cytokine levels | 2021-2026 | to define cytokine levels in autoimmune cytopenias and myelodysplastic syndromes by ELISA |
| Single cell RNA expression | 2021-2026 | to define bone marrow composition by single cell analysis in autoimmune cytopenias and myelodysplastic syndromes |
| Evaluation of somatic mutations | 2021-2026 | to define somatic mutations in autoimmune cytopenias and myelodysplastic syndromes by NGS |
| Evaluation of pyruvate kinase activity | 2021-2026 | to define pyruvate kinase activity in myelodysplastic syndromes |
Countries
Italy
Outcome results
None listed