NCT07014904

"Cytotoxic T Lymphocyte-Associated Antigen-4 (CTLA-4) Gene Single-nucleotide Polymorphism in Primary Immune Thrombocytopenic Purpura in Children"

• Status: Not Yet Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 80 (estimated)
• Sponsor: Sohag University · Academic / Other
• Sex: All
• Age: 1 Year – 18 Years
• Healthy volunteers: Accepted

Summary

the investigators aim in this study to investigate the potential association of single gene polymorphisms of CTLA-4 (SNPs; rs: 3087243) using real-time PCR in children with primary ITP.

Detailed description

Primary immune thrombocytopenia (ITP) is an acquired autoimmune bleeding disorder characterized by isolated thrombocytopenia (platelet count \< 100 × 109/L) in the absence of other etiologies. The incidence of the disease is approximately 2-10 per 100,000 adults each year, with a prevalence of 9-20 per 100,000 adults Auto antibody-mediated platelet destruction is the canonical mechanism of platelet destruction in ITP. Platelets coated by anti-glycoprotein (GP) autoantibodies are prematurely destroyed by macrophages via Fcγ receptors (FcγRs) in the reticuloendothelial system. Autoantibodies also accelerate platelet destruction through the induction of complement-dependent cytotoxicity (CDC) and platelet apoptosis Many studies have demonstrated that CD8+ cytotoxic T lymphocytes (CTLs) from peripheral blood or spleen of ITP patients can directly lyse platelets or induce platelet apoptosis through granzyme B and perforin. CTLs and anti-GP autoantibodies can induce the desialylation of platelet surface glycans, leading to premature platelet clearance. The immune checkpoint pathways are critical modulators of the immune system, allowing immune response initiation and preventing autoimmunity onset. Immune checkpoints, including co-stimulation and co-inhibition signal pathways, are among the central mechanisms that regulate T-cell-mediated immune responses CTLA-4 production is strongly influenced by genetic factors. Single-nucleotide polymorphisms (SNPs) of the CTLA-4-encoding genes are involved in the pathogenesis of many autoimmune diseases such as systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) In recent years, it had been shown that thrombocytopenia was associated with the transcription level of CTLA4 and regulation of T-cell activation

Conditions

• ITP - Immune Thrombocytopenia

Timeline

• Start date: 2025-08-20
• Primary completion: 2027-06-04
• Completion: 2027-07-20
• First posted: 2025-06-11
• Last updated: 2025-06-17