Evaluation of the Diagnostic/Therapeutic Course of Patients With Autoimmune Cytopenias (Autoimmune Hemolytic Anemia AIHA, Immune Thrombocytopenia ITP, Chronic Idiopathic/Autoimmune Neutropenia CIN/AIN) and Identification of Predictive and Prognostic Markers.
Overview
- Phase
- Not Applicable
- Intervention
- cytokine essays
- Conditions
- Autoimmune Hemolytic Anemia
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
- Enrollment
- 200
- Locations
- 1
- Primary Endpoint
- specificity of autoantibody testing in autoimmune cytopenias
- Status
- Recruiting
- Last Updated
- last year
Overview
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.
Investigators
Eligibility Criteria
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
Arms & Interventions
Autoimmune hemolytic anemia
AIHA patients will be enrolled at diagnosis and stratified according to AIHA type (i.e. warm, cold, mixed, and atypical forms), sampled for peripheral blood for cytokine and NGS studies, and for feces for microbiome studies. If clinically indicated, bone marrow evaluation will be performed and a sample for single cell analysis will be collected. Patients will be followed up to collect treatments, responses, relapses, and complications (particularly thromboses and infections).
Intervention: cytokine essays
Autoimmune hemolytic anemia
AIHA patients will be enrolled at diagnosis and stratified according to AIHA type (i.e. warm, cold, mixed, and atypical forms), sampled for peripheral blood for cytokine and NGS studies, and for feces for microbiome studies. If clinically indicated, bone marrow evaluation will be performed and a sample for single cell analysis will be collected. Patients will be followed up to collect treatments, responses, relapses, and complications (particularly thromboses and infections).
Intervention: NGS
Autoimmune hemolytic anemia
AIHA patients will be enrolled at diagnosis and stratified according to AIHA type (i.e. warm, cold, mixed, and atypical forms), sampled for peripheral blood for cytokine and NGS studies, and for feces for microbiome studies. If clinically indicated, bone marrow evaluation will be performed and a sample for single cell analysis will be collected. Patients will be followed up to collect treatments, responses, relapses, and complications (particularly thromboses and infections).
Intervention: Fecal microbiome
Autoimmune hemolytic anemia
AIHA patients will be enrolled at diagnosis and stratified according to AIHA type (i.e. warm, cold, mixed, and atypical forms), sampled for peripheral blood for cytokine and NGS studies, and for feces for microbiome studies. If clinically indicated, bone marrow evaluation will be performed and a sample for single cell analysis will be collected. Patients will be followed up to collect treatments, responses, relapses, and complications (particularly thromboses and infections).
Intervention: Erythropoietin
Immune thrombocytopenia
ITP patients will be enrolled at diagnosis and sampled for peripheral blood for cytokine and NGS studies, and for feces for microbiome studies. If clinically indicated, bone marrow evaluation will be performed and a sample for single cell analysis will be collected.Patients will be followed up to collect treatments, responses, relapses, and complications (particularly thromboses and infections).
Intervention: cytokine essays
Immune thrombocytopenia
ITP patients will be enrolled at diagnosis and sampled for peripheral blood for cytokine and NGS studies, and for feces for microbiome studies. If clinically indicated, bone marrow evaluation will be performed and a sample for single cell analysis will be collected.Patients will be followed up to collect treatments, responses, relapses, and complications (particularly thromboses and infections).
Intervention: NGS
Immune thrombocytopenia
ITP patients will be enrolled at diagnosis and sampled for peripheral blood for cytokine and NGS studies, and for feces for microbiome studies. If clinically indicated, bone marrow evaluation will be performed and a sample for single cell analysis will be collected.Patients will be followed up to collect treatments, responses, relapses, and complications (particularly thromboses and infections).
Intervention: Fecal microbiome
Immune thrombocytopenia
ITP patients will be enrolled at diagnosis and sampled for peripheral blood for cytokine and NGS studies, and for feces for microbiome studies. If clinically indicated, bone marrow evaluation will be performed and a sample for single cell analysis will be collected.Patients will be followed up to collect treatments, responses, relapses, and complications (particularly thromboses and infections).
Intervention: Thrombopoietin Receptor Agonist
Chronic idiopathic neutropenia/Autoimmune neutropenia
CIN/AIN patients will be enrolled at diagnosis and sampled for peripheral blood for cytokine and NGS studies, and for feces for microbiome studies. If clinically indicated, bone marrow evaluation will be performed and a sample for single cell analysis will be collected.Patients will be followed up to collect treatments, responses, relapses, and complications (particularly infections).
Intervention: cytokine essays
Chronic idiopathic neutropenia/Autoimmune neutropenia
CIN/AIN patients will be enrolled at diagnosis and sampled for peripheral blood for cytokine and NGS studies, and for feces for microbiome studies. If clinically indicated, bone marrow evaluation will be performed and a sample for single cell analysis will be collected.Patients will be followed up to collect treatments, responses, relapses, and complications (particularly infections).
Intervention: NGS
Chronic idiopathic neutropenia/Autoimmune neutropenia
CIN/AIN patients will be enrolled at diagnosis and sampled for peripheral blood for cytokine and NGS studies, and for feces for microbiome studies. If clinically indicated, bone marrow evaluation will be performed and a sample for single cell analysis will be collected.Patients will be followed up to collect treatments, responses, relapses, and complications (particularly infections).
Intervention: Fecal microbiome
Chronic idiopathic neutropenia/Autoimmune neutropenia
CIN/AIN patients will be enrolled at diagnosis and sampled for peripheral blood for cytokine and NGS studies, and for feces for microbiome studies. If clinically indicated, bone marrow evaluation will be performed and a sample for single cell analysis will be collected.Patients will be followed up to collect treatments, responses, relapses, and complications (particularly infections).
Intervention: G-CSF
Myelodysplastic syndromes
MDS patients will be enrolled at diagnosis and sampled for peripheral blood for cytokine and NGS studies, and to evaluate red cell metabolism. If clinically indicated, bone marrow evaluation will be performed and a sample for single cell analysis will be collected. Patients will be followed up to collect treatments, responses, relapses, and outcome.
Intervention: cytokine essays
Myelodysplastic syndromes
MDS patients will be enrolled at diagnosis and sampled for peripheral blood for cytokine and NGS studies, and to evaluate red cell metabolism. If clinically indicated, bone marrow evaluation will be performed and a sample for single cell analysis will be collected. Patients will be followed up to collect treatments, responses, relapses, and outcome.
Intervention: NGS
Myelodysplastic syndromes
MDS patients will be enrolled at diagnosis and sampled for peripheral blood for cytokine and NGS studies, and to evaluate red cell metabolism. If clinically indicated, bone marrow evaluation will be performed and a sample for single cell analysis will be collected. Patients will be followed up to collect treatments, responses, relapses, and outcome.
Intervention: Fecal microbiome
Myelodysplastic syndromes
MDS patients will be enrolled at diagnosis and sampled for peripheral blood for cytokine and NGS studies, and to evaluate red cell metabolism. If clinically indicated, bone marrow evaluation will be performed and a sample for single cell analysis will be collected. Patients will be followed up to collect treatments, responses, relapses, and outcome.
Intervention: Luspatercept
Outcomes
Primary Outcomes
specificity of autoantibody testing in autoimmune cytopenias
Time Frame: 2021-2026
to define the specificity of autoantibody testing in autoimmune cytopenias
sensitivity of autoantibody testing in autoimmune cytopenias
Time Frame: 2021-2026
to define the sensitivity of autoantibody testing in autoimmune cytopenias
sensitivity of bone marrow trephine in autoimmune cytopenias
Time Frame: 2021-2026
to define the sensitivity of bone marrow trephine in autoimmune cytopenias
Secondary Outcomes
- Single cell RNA expression(2021-2026)
- overall response rate(2021-2026)
- Evaluation of pyruvate kinase activity(2021-2026)
- Evaluation of microbiome(2021-2026)
- Evaluation of cytokine levels(2021-2026)
- Evaluation of somatic mutations(2021-2026)