" TREX1 Gene Mutations and Their Role in Systemic Lupus Erythematosus

NCT07397728 | Recruiting DMC

• 1 other identifier: TREX1 Gene
• Study Type: observational
• Target: 90
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Systemic Lupus Erythematosus

Outcome Measures

Primary Outcomes (2)

• Systemic Lupus Erythematosus Assessment

  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

  Assessment the association between TREX1 gene polymorphism and systemic lupus erythematosus susceptibility

  3 Months

Study Arms (2)

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

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

Interventions

TREX1 gene polymorphisms DIAGNOSTIC_TEST

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

Also known as: anti-dsDNA, anti-Sm, anti-Ro/SSA, anti-La/SSB

Group A : (Systemic Lupus Erythrematosus); Group B (Healthy Controls)

Eligibility Criteria

• Age: 18 Years - 60 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• 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.

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• South Valley University: lead

Study Sites (1)

Qina University hospital, South Valley University Hospital

Qina, South Valley, Egypt

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Sample Collection: DNA extracted from 4 mL EDTA blood from SLE patients and healthy controls. Genotyping: Real-time polymerase chain reaction (PCR) genotyping for TREX1 will be done with the TaqMan-Allelic discrimination method in a Step One Plus Real-Time PCR system (Applied Biosystems, Foster City, CA, USA), and the results will be analyzed using the Allelic Discrimination software program (Applied Biosystems). Mutation Analysis: Variants will be compared to reference sequences (e.g., NM\_016381.3) and classified according to ACMG guidelines.

MeSH Terms

Conditions

Lupus Erythematosus, Systemic

Condition Hierarchy (Ancestors)

Connective Tissue Diseases; Skin and Connective Tissue Diseases; Autoimmune Diseases; Immune System Diseases

Study Officials

• Eisa Mohammed Hegazy, Professor

  Dermatology, Venereology and Andrology. Faculty of Medicine,Qena University

  STUDY CHAIR

• Mohammed Hosny Hassan, Professor

  Biochemistry ,Qena faculty of medicine ,south valley university

  STUDY DIRECTOR

Central Study Contacts

Amira Rabea AbuElfadl, MSc

CONTACT

+201146299296; Amirarabea575@gmail.com

Soheir Abdel-hamid Ali, Lecturer

CONTACT

+201066877343; Soher.abdel-hamed@med.svu.edu.eg

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Resident at Dermatology , venereology and andrology, Faculty of medicine

Study Record Dates

• First Submitted: January 23, 2026
• First Posted: February 9, 2026
• Study Start: June 10, 2025
• Primary Completion: June 1, 2026
• Study Completion: June 10, 2026
• Last Updated: February 9, 2026

Record last verified: 2025-06

Locations

EG (1)