NCT07397728

" TREX1 Gene Mutations and Their Role in Systemic Lupus Erythematosus

TREX1 Gene Mutations and Their Role in Systemic Lupus Erythematosus: A Genotype-Phenotype Correlation Study

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 90 (estimated)
• Sponsor: South Valley University · Academic / Other
• Sex: All
• Age: 18 Years – 60 Years
• Healthy volunteers: Accepted

Summary

Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease characterized by diverse clinical manifestations, prominently involving the skin.

Detailed description

Cutaneous lesions are among the earliest and most frequent features of SLE, with over 70% of patients developing mucocutaneous involvement during their disease course. The presence and severity of cutaneous manifestations have been associated with specific autoantibodies, such as anti-Ro/SSA and anti-dsDNA, which may reflect underlying genetic susceptibility. Recent studies have also implicated gene polymorphisms in IRF5, STAT4, TREX1, and TNFA in the pathogenesis of cutaneous SLE phenotypes. Defective TREX1 exonuclease activity, leading to intracellular accumulation of DNA, may trigger type I interferon activation-a key mechanism in lupus pathophysiology. Despite the extensive global literature, data from Egyptian patients remain limited, especially regarding the relationship between TREX1 gene variants and cutaneous lupus phenotypes. Understanding how autoantibody profiles and gene polymorphisms relate to clinical features and disease activity could enhance early diagnosis, predict flares, and improve personalized therapy.

Conditions

• Systemic Lupus Erythematosus

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	TREX1 gene polymorphisms	To assess the prevalence of selected autoantibodies as (anti-dsDNA, anti-Sm, anti-Ro/SSA, anti-La/SSB) and TREX1 gene polymorphisms in SLE patients, and their association with clinical features and disease activity

Timeline

• Start date: 2025-06-10
• Primary completion: 2026-06-01
• Completion: 2026-06-10
• First posted: 2026-02-09
• Last updated: 2026-02-09

Locations

1 site across 1 country: Egypt