Autoimmune Cytopenias as a Sign of Primary Immunodeficiency.

Not Applicable

Active, not recruiting

• Conditions: Cytopenia
• Interventions: Other: Identification of specific markers

• Registration Number: NCT06276036
• Lead Sponsor: Meyer Children's Hospital IRCCS

Brief Summary

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

Detailed Description

Not available

Study Timeline

• Study Start: 2019-07-23
• Study First Submitted: 2024-02-18
• Study First Submitted QC: 2024-02-18
• Study First Posted: 2024-02-23
• Status Verified: 2024-03
• Last Update Submitted: 2024-03-28
• Last Update Posted: 2024-03-29
• Primary Completion: 2024-12-01
• Study Completion: 2025-06-01

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 53

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Identification of specific markers	Identification of specific markers	Analysis of the immunological profile, Genetic analysis using next-generation sequencing (NGS) technology, Bioinformatic analysis, Functional studies.

Primary Outcome Measures

Name	Time	Method
Identification of specific markers	Every three to six months	The primary goal is to identify potential primary immunodeficiencies (PI) as responsible for autoimmune cytopenias through a comprehensive examination of clinical manifestations and the study of immune system cells in the patient cohort under investigation. The study will involve immunophenotypic investigation of T and B cell subsets using flow cytometry, the application of genomic approaches, and possibly the use of specific functional immunological tests to confirm and validate genetic results.

Trial Locations

Locations (6)

Clinica Pediatrica - Università di Catania; 🇮🇹 Catania, Italy

Ghent University Hospital; 🇧🇪 Ghent, Belgium

University of South Florida; 🇺🇸 Tampa, Florida, United States

Meyer Children's Hospital IRCCS; 🇮🇹 Florence, Italy

IRCCS Istituto Giannina Gaslini; 🇮🇹 Genova, Italy

Azienda Ospedaliero Universitaria Pisana; 🇮🇹 Pisa, Italy