TREX1 gene changes in adults with lupus who have skin symptoms
Official title: TREX1 Gene Mutations and Their Role in Systemic Lupus Erythematosus: A Genotype-Phenotype Correlation Study
Run by South Valley University · NCT07397728 · Data updated 2026-11-12
This study will test whether TREX1 gene variants are linked to skin problems in adults with systemic lupus erythematosus.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 18 Years to 60 Years |
| Sex | All |
| Enrollment | 90 (estimated) |
| Sponsor | South Valley University Academic / other |
| Locations | 1 site (Qina, South Valley) |
| Status | Recruiting |
| Started | June 10, 2025 |
| Main results expected | June 1, 2026 |
| Study ends | June 10, 2026 |
| Registry record updated | February 9, 2026 |
| Trial ID | NCT07397728 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a 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.
✕Probably 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.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: 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.
Who can join: the full rules
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 it's running
-
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
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Effects of anifrolumab on arterial inflammation in SLE patients
This study tests whether anifrolumab can reduce blood vessel inflammation in people with active systemic lupus erythematosus.
-
Home urine testing for people with lupus
Participants with lupus will try weekly home urine tests in addition to usual care to see if this helps monitor kidney health over a year.
-
CR-402 treatment for refractory autoimmune disease
This study tests CRT-402, a CD19-targeted CAR-T therapy, in adults with active, treatment-resistant autoimmune diseases like SLE, systemic sclerosis, and inflammatory myopathy to see if it is safe and capable of helping control disease.
-
ATG-201 in adults with autoimmune diseases
This early, open-label study tests ATG-201 in adults with autoimmune diseases to see if it is safe and tolerable, and to get initial clues about how the body handles the drug and its effects.
-
Biomarker tests in adults with lupus to see how kidney disease changes over time
Researchers will follow adults with lupus to see if blood and urine biomarkers can predict kidney involvement, flares, and treatment responses during routine care.
-
Sirolimus added to standard therapy for adults with SLE-associated immune thrombocytopenia
This trial tests whether adding sirolimus to usual treatment helps adults with SLE-related immune thrombocytopenia see their platelet counts improve.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.