" TREX1 Gene Mutations and Their Role in Systemic Lupus Erythematosus

February 5, 2026 updated by: Amira Rabea AbuElfadl, South Valley University

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

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

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

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.

Study Type

Observational

Enrollment (Estimated)

90

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • Egypt
    • South Valley
      • Qina, South Valley, Egypt
        • Recruiting
        • Qina University hospital, South Valley University Hospital
        • Contact:
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Probability Sample

Study Population

  • Group A: 60 adults (18-60 years) diagnosed with SLE based on 2019 EULAR/ACR criteria, each with at least one cutaneous manifestation.
  • Group B: 30 age- and sex-matched healthy controls with no personal or family history of autoimmune disease and negative ANA and anti-dsDNA.

Description

Inclusion Criteria:

  • Adult aged 18-60 years
  • Diagnosed as SLE per 2019 EULAR/ACR classification criteria.
  • Presence of at least one cutaneous manifestation (acute, subacute, or chronic).
  • Willing to provide written informed consent for participation and genetic testing

Exclusion Criteria:

  • Overlap autoimmune syndromes (e.g., dermatomyositis, systemic sclerosis).
  • Systemic infection, malignancy, or pregnancy.
  • Use of biologic therapy or immunosuppressive pulses within one month.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Group A : (Systemic Lupus Erythrematosus)
About 60 patients ) diagnosed with SLE based on 2019 EULAR/ACR criteria, each with at least one cutaneous manifestation.
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
Other Names:
  • anti-dsDNA, anti-Sm, anti-Ro/SSA, anti-La/SSB
Group B (Healthy Controls)
30 age- and sex-matched healthy controls with no personal or family history of autoimmune disease and negative ANA and anti-dsDNA.
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
Other Names:
  • anti-dsDNA, anti-Sm, anti-Ro/SSA, anti-La/SSB

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Systemic Lupus Erythematosus Assessment
Time Frame: 3 Months

Assessment of disease activity in Systemic Lupus Erythematosus (SLE) using Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2K). SLEDAI-2K as follows :

1-5 is Mild disease activity 6-10 is Moderate disease activity 11 or more is Severe disease activity
3 Months
TREX1 gene polymorphism and SLE
Time Frame: 3 Months
Assessment the association between TREX1 gene polymorphism and systemic lupus erythematosus susceptibility
3 Months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

South Valley University

Investigators

  • Study Chair: Eisa Mohammed Hegazy, Professor, Dermatology, Venereology and Andrology. Faculty of Medicine,Qena University
  • Study Director: Mohammed Hosny Hassan, Professor, Biochemistry ,Qena faculty of medicine ,south valley university

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

June 10, 2025

Primary Completion (Estimated)

June 1, 2026

Study Completion (Estimated)

June 10, 2026

Study Registration Dates

First Submitted

January 23, 2026

First Submitted That Met QC Criteria

February 5, 2026

First Posted (Actual)

February 9, 2026

Study Record Updates

Last Update Posted (Actual)

February 9, 2026

Last Update Submitted That Met QC Criteria

February 5, 2026

Last Verified

June 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • TREX1 Gene

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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