Markers for Primary Immunodeficiency

Recruiting in Palo Alto (17 mi)

+5 other locations

Age: < 18

Sex: Any

Travel: May Be Covered

Time Reimbursement: Varies

Trial Phase: Academic

Waitlist Available

Sponsor: Meyer Children's Hospital IRCCS

No Placebo Group

Trial Summary

What is the purpose of this trial?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

Eligibility Criteria

This trial is for patients with autoimmune cytopenias, which include conditions like low platelet count, anemia, and low white blood cell count that are resistant to treatment. These patients may also have primary immunodeficiencies (PI).

Inclusion Criteria

For immune thrombocytopenic purpura: platelet count increase >30,000 with at least a twofold increase from pre-treatment value

I have been diagnosed with a blood disorder where my immune system attacks my blood cells.

For autoimmune hemolytic anemia: Hb ≥10 g/dL with an increase of at least 2 g/dL compared to baseline

Exclusion Criteria

I have a temporary low blood cell count without autoimmune disease, not needing immediate treatment.

Participant Groups

The study aims to identify specific early biomarkers in the immune system that can help diagnose autoimmune cytopenias and predict who will respond well to therapy.

1Treatment groups

Experimental Treatment

Group I: Identification of specific markersExperimental Treatment1 Intervention

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