Autoimmune Cytopenias as a Sign of Primary Immunodeficiency.

Meyer Children's Hospital IRCCS

Status: Active, not recruiting

Conditions: Cytopenia

Treatments: Other: Identification of specific markers

Study type: Interventional

Funder types: Other

Identifiers

NCT06276036

CAPID

Details and patient eligibility

About

Autoimmune cytopenias resistant to treatment are among the most common clinical manifestations observed in patients with congenital alterations of the immune system, such as primary immunodeficiencies (PI). The exact contribution of immune system alterations to the pathogenesis of autoimmune cytopenias has not yet been fully elucidated. Moreover, conventionally employed therapeutic strategies often fail, leading to increased healthcare costs, high morbidity, and even mortality. Therefore, there is a need to establish clinical guidelines for diagnosis and to identify early biomarkers capable of identifying individuals responsive to therapy. Thus, a systematic approach to the study of such pathologies will allow for the identification of early biomarkers and facilitate the development of targeted therapeutic strategies

Enrollment: 53 patients

Sex: All

Ages: 1 to 17 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Clinical and hematological diagnosis of autoimmune cytopenia

Additional inclusion criteria for classification into responder vs. non-responder:

• For immune thrombocytopenic purpura: platelet count increase >30,000 with at least a twofold increase from pre-treatment value
• For autoimmune hemolytic anemia: Hb ≥10 g/dL with an increase of at least 2 g/dL compared to baseline

Exclusion criteria

• Transient cytopenia without confirmation of autoimmunity where frontline treatment is not necessary

Trial design

Primary purpose: Diagnostic

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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53 participants in 1 patient group

Identification of specific markers

Experimental group

Description:

Analysis of the immunological profile, Genetic analysis using next-generation sequencing (NGS) technology, Bioinformatic analysis, Functional studies.

Treatment:

Other: Identification of specific markers