Prospective Evaluation of Diagnosis and Treatment of Patients With Autoimmune Cytopenias Including Autoimmune Hemolytic Anemia, Immune Thrombocytopenia, and Chronic Idiopathic/Autoimmune Neutropenia

Registration Number
NCT05931718
Lead Sponsor
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
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:
...

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 5...

Recruitment & Eligibility

Status
RECRUITING
Sex
All
Target Recruitment
200
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.
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Exclusion Criteria
  • any condition impeding the acquisition of the informed consent
  • immune cytopenia diagnosis preceding >/= 6 months the enrolment
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Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Arm && Interventions
GroupInterventionDescription
Autoimmune hemolytic anemiaNGSAIHA 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).
Autoimmune hemolytic anemiaFecal microbiomeAIHA 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).
Immune thrombocytopeniacytokine essaysITP 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).
Immune thrombocytopeniaNGSITP 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).
Immune thrombocytopeniaFecal microbiomeITP 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).
Myelodysplastic syndromesNGSMDS 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.
Chronic idiopathic neutropenia/Autoimmune neutropeniacytokine essaysCIN/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).
Autoimmune hemolytic anemiacytokine essaysAIHA 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).
Chronic idiopathic neutropenia/Autoimmune neutropeniaNGSCIN/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).
Myelodysplastic syndromesFecal microbiomeMDS 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.
Immune thrombocytopeniaThrombopoietin Receptor AgonistITP 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).
Chronic idiopathic neutropenia/Autoimmune neutropeniaFecal microbiomeCIN/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).
Myelodysplastic syndromescytokine essaysMDS 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.
Chronic idiopathic neutropenia/Autoimmune neutropeniaG-CSFCIN/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).
Autoimmune hemolytic anemiaErythropoietinAIHA 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).
Myelodysplastic syndromesLuspaterceptMDS 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.
Primary Outcome Measures
NameTimeMethod
specificity of autoantibody testing in autoimmune cytopenias2021-2026

to define the specificity of autoantibody testing in autoimmune cytopenias

sensitivity of autoantibody testing in autoimmune cytopenias2021-2026

to define the sensitivity of autoantibody testing in autoimmune cytopenias

sensitivity of bone marrow trephine in autoimmune cytopenias2021-2026

to define the sensitivity of bone marrow trephine in autoimmune cytopenias

Secondary Outcome Measures
NameTimeMethod
Single cell RNA expression2021-2026

to define bone marrow composition by single cell analysis in autoimmune cytopenias and myelodysplastic syndromes

overall response rate2021-2026

to define response rates to treatment of autoimmune cytopenias and myelodysplastic syndromes

Evaluation of pyruvate kinase activity2021-2026

to define pyruvate kinase activity in myelodysplastic syndromes

Evaluation of microbiome2021-2026

to define microbiome composition in autoimmune cytopenias and myelodysplastic syndromes

Evaluation of cytokine levels2021-2026

to define cytokine levels in autoimmune cytopenias and myelodysplastic syndromes by ELISA

Evaluation of somatic mutations2021-2026

to define somatic mutations in autoimmune cytopenias and myelodysplastic syndromes by NGS

Trial Locations

Locations (1)

Fondazione Irccs Ca' Granda Ospedale Maggiore Policlinico

🇮🇹

Milano, Italy

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