TREX1 gene changes in adults with lupus who have skin symptoms
TREX1 Gene Mutations and Their Role in Systemic Lupus Erythematosus: A Genotype-Phenotype Correlation Study
This study will test whether TREX1 gene variants are linked to skin problems in adults with systemic lupus erythematosus.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 90 (estimated) |
| Ages | 18 Years to 60 Years |
| Sex | All |
| Sponsor | South Valley University Academic / other |
| Locations | 1 site (Qina, South Valley) |
| Trial ID | NCT07397728 on ClinicalTrials.gov |
What this trial studies
This is an observational genetic association study enrolling adults with SLE and at least one cutaneous manifestation at South Valley University hospitals in Qena, Egypt. Investigators will collect detailed clinical data, autoantibody profiles, and disease activity measures, and perform TREX1 genotyping to identify polymorphisms. The analysis will compare TREX1 variants with cutaneous phenotypes and measures of lupus activity to look for correlations. The goal is to fill gaps in data from Egyptian patients and to better characterize genetic contributions to cutaneous lupus.
Who should consider this trial
Good fit: Adults 18–60 years old diagnosed with SLE by the 2019 EULAR/ACR criteria who have at least one acute, subacute, or chronic cutaneous manifestation and who consent to genetic testing are ideal candidates.
Not a fit: Patients without cutaneous involvement, those with overlap autoimmune syndromes, pregnant individuals, or those recently receiving biologic therapy or immunosuppressive pulses are unlikely to gain direct benefit from this study's findings.
Why it matters
Potential benefit: If successful, the findings could help predict who is at higher risk for skin disease or flares and support more personalized management for patients with lupus.
How similar studies have performed: International studies have previously linked TREX1 and other interferon-pathway genes to lupus, but evidence specifically connecting TREX1 variants to cutaneous lupus—particularly in Egyptian cohorts—is limited.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Qina, South Valley
- Qina University hospital, South Valley University Hospital — Qina, South Valley, Egypt (Recruiting)
Study contacts
- Study coordinator: Amira Rabea AbuElfadl, MSc
- Email: Amirarabea575@gmail.com
- Phone: +201146299296
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.