Autoimmune Cytopenias as a Sign of Primary Immunodeficiency.

Autoimmune Cytopenias as a Sign of Primary Immunodeficiency: Immunological and Molecular Approach to Optimize the Diagnostic-therapeutic Pathway

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

Study Overview

• Status: Active, not recruiting
• Conditions: Cytopenia
• Intervention / Treatment: Other: Identification of specific markers

• Study Type: Interventional
• Enrollment (Actual): 53
• Phase: Not Applicable

Contacts and Locations

Study Locations

• Belgium
  • Ghent, Belgium
    • Ghent University Hospital
• Italy
  • Catania, Italy
    • Clinica Pediatrica - Università di Catania
  • Florence, Italy
    • Meyer Children's Hospital IRCCS
  • Genova, Italy
    • IRCCS Istituto Giannina Gaslini
  • Pisa, Italy
    • Azienda Ospedaliero Universitaria Pisana
• United States
  • Florida
    • Tampa, Florida, United States, 33620
      • University of South Florida

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child
• Accepts Healthy Volunteers: No

Description

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 Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Identification of specific markers; Analysis of the immunological profile, Genetic analysis using next-generation sequencing (NGS) technology, Bioinformatic analysis, Functional studies.	Other: Identification of specific markers; Analysis of the immunological profile, Genetic analysis using next-generation sequencing (NGS) technology, Bioinformatic analysis, Functional studies.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Identification of specific markers	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.	Every three to six months

Collaborators and Investigators

• Sponsor: Meyer Children's Hospital IRCCS

Study record dates

Study Major Dates

• Study Start (Actual): July 23, 2019
• Primary Completion (Estimated): December 1, 2024
• Study Completion (Estimated): June 1, 2025

Study Registration Dates

• First Submitted: February 18, 2024
• First Submitted That Met QC Criteria: February 18, 2024
• First Posted (Actual): February 23, 2024

Study Record Updates

• Last Update Posted (Actual): March 29, 2024
• Last Update Submitted That Met QC Criteria: March 28, 2024
• Last Verified: March 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Immunologic Deficiency Syndromes; Immune System Diseases; Hematologic Diseases; Genetic Diseases, Inborn; Blood Platelet Disorders; Leukocyte Disorders; Primary Immunodeficiency Diseases; Anemia; Thrombocytopenia; Leukopenia; Cytopenia
• Other Study ID Numbers: CAPID

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No