Autoimmune Cytopenias as a Sign of Primary Immunodeficiency.

NCT06276036 | Active Not Recruiting

• 1 other identifier: CAPID
• Study Type: interventional
• Target: 53
• Locations: 3 countries
• Sites: 6

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

Conditions

Cytopenia

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (1)

Identification of specific markers

EXPERIMENTAL

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

Other: Identification of specific markers

Interventions

Identification of specific markers OTHER

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

Identification of specific markers

Eligibility Criteria

• Age: 1 Year - 17 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• Clinical and hematological diagnosis of autoimmune cytopenia
• 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

You may not qualify if:

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

Sponsors & Collaborators

• Meyer Children's Hospital IRCCS: lead

Study Sites (6)

University of South Florida

Tampa, Florida, 33620, United States

Location

Ghent University Hospital

Ghent, Belgium

Location

Clinica Pediatrica - Università di Catania

Catania, Italy

Location

Meyer Children's Hospital IRCCS

Florence, Italy

Location

IRCCS Istituto Giannina Gaslini

Genova, Italy

Location

Azienda Ospedaliero Universitaria Pisana

Pisa, Italy

Location

MeSH Terms

Conditions

Cytopenia

Condition Hierarchy (Ancestors)

Hematologic Diseases; Hemic and Lymphatic Diseases

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: February 18, 2024
• First Posted: February 23, 2024
• Study Start: July 23, 2019
• Primary Completion: December 1, 2024
• Study Completion: June 1, 2025
• Last Updated: March 29, 2024

Record last verified: 2024-03

Data Sharing

• IPD Sharing: Will not share

Locations

US (1); BE (1); IT (4)