Autoimmune Cytopenias as a Sign of Primary Immunodeficiency.

Cytopenia Clinical Trial

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT06276036
• Other study ID #: CAPID
• Status: Active, not recruiting
• Phase: N/A
• Start date: July 23, 2019
• Est. completion date: June 1, 2025

Study information

• Verified date: March 2024
• Source: Meyer Children's Hospital IRCCS
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 53
• Est. completion date: June 1, 2025
• Est. primary completion date: December 1, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 1 Year to 17 Years

Eligibility

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

Related Conditions & MeSH terms

• Anemia
• Cytopenia
• Leukopenia
• Primary Immunodeficiency Diseases
• Thrombocytopenia

Intervention

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

Locations

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

Sponsors (1)

Lead Sponsor	Collaborator
Meyer Children's Hospital IRCCS

Countries where clinical trial is conducted

United States,  Belgium,  Italy, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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