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.
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.
Study Type
OBSERVATIONAL
Enrollment
200
evaluation of immunomodulatory cytokines by ELISA kits on peripheral blood samples
evaluation of somatic mutations commonly associated with myeloid neoplasm and immunodeficiencies by next generation sequencing on peripheral blood samples
evaluation of fecal microbiome on fecal samples
evaluation of recombinant erythropoietin use, safety and efficacy in patients with autoimmune hemolytic anemia according to clinical practice
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
evaluation of G-CSF use, safety and efficacy in patients with CIN/AIN according to clinical practice
Fondazione Irccs Ca' Granda Ospedale Maggiore Policlinico
Milan, Italy
RECRUITINGsensitivity of autoantibody testing in autoimmune cytopenias
to define the sensitivity of autoantibody testing in autoimmune cytopenias
Time frame: 2021-2026
specificity of autoantibody testing in autoimmune cytopenias
to define the specificity of autoantibody testing in autoimmune cytopenias
Time frame: 2021-2026
sensitivity of bone marrow trephine in autoimmune cytopenias
to define the sensitivity of bone marrow trephine in autoimmune cytopenias
Time frame: 2021-2026
overall response rate
to define response rates to treatment of autoimmune cytopenias and myelodysplastic syndromes
Time frame: 2021-2026
Evaluation of somatic mutations
to define somatic mutations in autoimmune cytopenias and myelodysplastic syndromes by NGS
Time frame: 2021-2026
Evaluation of pyruvate kinase activity
to define pyruvate kinase activity in myelodysplastic syndromes
Time frame: 2021-2026
Evaluation of microbiome
to define microbiome composition in autoimmune cytopenias and myelodysplastic syndromes
Time frame: 2021-2026
Single cell RNA expression
to define bone marrow composition by single cell analysis in autoimmune cytopenias and myelodysplastic syndromes
Time frame: 2021-2026
Evaluation of cytokine levels
to define cytokine levels in autoimmune cytopenias and myelodysplastic syndromes by ELISA
Time frame: 2021-2026
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