Actively Recruiting
TREX1 Gene Mutations and Their Role in Systemic Lupus Erythematosus A Genotype-Phenotype Correlation Study
Led by South Valley University · Updated on 2026-02-09
90
Participants Needed
1
Research Sites
1 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Systemic lupus erythematosus (SLE) is an autoimmune disease affecting multiple body systems, with skin involvement being one of the earliest and most common features. This research evaluates the role of TREX1 gene mutations and certain autoantibodies in SLE, especially how these genetic factors relate to skin symptoms and disease activity. The study focuses on understanding these connections in Egyptian patients to improve early diagnosis and personalized treatment. The study involves about 60 patients diagnosed with SLE who have at least one skin manifestation, compared with 30 healthy volunteers matched by age and sex. Researchers will assess selected autoantibodies and TREX1 gene polymorphisms to explore their prevalence and connection to clinical features. This is an observational study without treatment interventions. Participants will provide informed consent and undergo genetic testing and autoantibody assessments. Researchers will monitor disease activity and gene polymorphisms over a 3-month period. The study aims to correlate genetic and antibody findings with disease symptoms and activity to better understand SLE's impact on the skin and overall health.
CONDITIONS
Brief Title
" TREX1 Gene Mutations and Their Role in Systemic Lupus Erythematosus
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Adults aged 18 to 60 years
- Diagnosed with systemic lupus erythematosus using 2019 EULAR/ACR criteria
- Have at least one skin-related symptom (acute, subacute, or chronic)
- Willing to provide written informed consent for participation and genetic testing
You will not qualify if you...
- Have other overlapping autoimmune diseases such as dermatomyositis or systemic sclerosis
- Have a systemic infection, cancer, or are pregnant
- Have used biologic therapy or immunosuppressive pulses within the last month
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - Up to 3 months
Participants undergo blood tests to assess TREX1 gene polymorphisms and autoantibody profiles relevant to systemic lupus erythematosus.
1 visit (in-person)
Trial Site Locations
Total: 1 location
1
Qina University hospital, South Valley University Hospital
Qina, South Valley, Egypt
Actively Recruiting
Research Team
A
Amira Rabea AbuElfadl, MSc
S
Soheir Abdel-hamid Ali, Lecturer
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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