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

Institute of Hospitalization and Scientific Care (IRCCS)

Status: Enrolling

Conditions: Immune Thrombocytopenia; Cold Agglutinin Disease; Chronic Idiopathic Neutropenia; Autoimmune Neutropenia; Myelodysplastic Syndromes; Autoimmune Hemolytic Anemia

Treatments: Drug: Luspatercept; Biological: NGS; Drug: G-CSF; Biological: Fecal microbiome; Biological: cytokine essays; Drug: Thrombopoietin Receptor Agonist; Drug: Erythropoietin

Study type: Observational

Funder types: Other

Identifiers

NCT05931718

CYTOPAN

Details and patient eligibility

About

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.

Full 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.

Enrollment: 200 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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

Trial design

200 participants in 4 patient groups

Autoimmune hemolytic anemia

Description:

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).

Treatment:

Drug: Erythropoietin

Biological: cytokine essays

Biological: Fecal microbiome

Biological: NGS

Immune thrombocytopenia

Description:

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).

Treatment:

Drug: Thrombopoietin Receptor Agonist

Biological: cytokine essays

Biological: Fecal microbiome

Biological: NGS

Chronic idiopathic neutropenia/Autoimmune neutropenia

Description:

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).

Treatment:

Biological: cytokine essays

Biological: Fecal microbiome

Drug: G-CSF

Biological: NGS

Myelodysplastic syndromes

Description:

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.

Treatment:

Biological: cytokine essays

Biological: Fecal microbiome

Drug: Luspatercept

Biological: NGS