NCT06276036

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

• Status: Unknown
• Phase: N/A
• Study type: Interventional
• Enrollment: 53 (actual)
• Sponsor: Meyer Children's Hospital IRCCS · Academic / Other
• Sex: All
• Age: 1 Year – 17 Years
• Healthy volunteers: Not accepted

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

Interventions

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

Timeline

• Start date: 2019-07-23
• Primary completion: 2024-12-01
• Completion: 2025-06-01
• First posted: 2024-02-23
• Last updated: 2024-03-29

Locations

6 sites across 3 countries: United States, Belgium, Italy