Systemic Lupus ErythematosusNCT07397728
" TREX1 Gene Mutations and Their Role in Systemic Lupus Erythematosus
An observational study of Systemic Lupus Erythematosus, run by South Valley University at 1 site in Egypt.
Trial summary
Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease characterized by diverse clinical manifestations, prominently involving the skin. Read more about this study
- Who is it for?
- Ages 18 to 60 yearsHealthy volunteers can take part
- Conditions the study is for
- Systemic Lupus Erythematosus
- What is being tested?
- TREX1 gene polymorphisms
- How many people
- 90 participants
- Where
- 1 siteEgypt
- Study dates
- 10 Jun 2025to 10 Jun 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 60 years
- All sexes
- Healthy volunteers accepted
- Adult
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.
Who may be able to join
- 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
Who cannot join
- Overlap autoimmune syndromes (e.g., dermatomyositis, systemic sclerosis).
- Systemic infection, malignancy, or pregnancy.
- Use of biologic therapy or immunosuppressive pulses within one month.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Egypt1 site, 1 recruiting
- Recruiting
Qina University hospital, South Valley University Hospital
Qina, South Valley
Ebtehal Alaa El-din Kotp Mohammed, Lecturer, +201066798383, Ebtehal_alaa@med.svu.edu.eg
Shimaa Saber Ahmed, M.D, +201006393764, shimaasaber063@gmail.com
About this study
Official title: 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.
Read the 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.
- Conditions
- Systemic Lupus Erythematosus
- Being tested
- TREX1 gene polymorphisms
- Medical subject headings
- Lupus Erythematosus, Systemic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
TREX1 gene polymorphismsDiagnostic test
Also called anti-dsDNA, anti-Sm, anti-Ro/SSA, anti-La/SSB
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
| Study group | Role | What they receive |
|---|---|---|
| Group A : (Systemic Lupus Erythrematosus) | About 60 patients ) diagnosed with SLE based on 2019 EULAR/ACR criteria, each with at least one cutaneous manifestation. Receives: 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. Receives: Diagnostic Test: TREX1 gene polymorphisms |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 3 Months
TREX1 gene polymorphism and SLE
Assessment the association between TREX1 gene polymorphism and systemic lupus erythematosus susceptibility
Measured: 3 Months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Feb 2026
- Study start10 Jun 2025
- Primary completion1 Jun 2026 (estimated)
- Study completion10 Jun 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Systemic Lupus ErythematosusStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 90 participants (estimated)
Sponsor and investigators
- Lead sponsor
- South Valley University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Amira Rabea AbuElfadl, South Valley University
- Investigators
- Eisa Mohammed Hegazy, Professor, Study chair, Dermatology, Venereology and Andrology. Faculty of Medicine,Qena UniversityMohammed Hosny Hassan, Professor, Study director, Biochemistry ,Qena faculty of medicine ,south valley university
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07397728
- Sponsor's protocol ID
- TREX1 Gene
- Status last verified
- Jun 2025
- First submitted
- 23 Jan 2026
- Last updated
- 9 Feb 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 9 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- TREX1 Gene Mutations and Their Role in Systemic Lupus Erythematosus: A Genotype-Phenotype Correlation Study
- ClinicalTrials.gov ID
- NCT07397728
- Acronym / sponsor ID
- TREX1 Gene
- Conditions
- Systemic Lupus Erythematosus
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 90 participants (estimated)
- Lead sponsor
- South Valley UniversityUniversity, hospital or other
- Study start
- 10 Jun 2025 (actual)
- Primary completion
- 1 Jun 2026 (estimated)
- Study completion
- 10 Jun 2026 (estimated)
- First posted
- 9 Feb 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease characterized by diverse clinical manifestations, prominently involving the skin.
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 design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Group A : (Systemic Lupus Erythrematosus) | – | Diagnostic Test: TREX1 gene polymorphismsAbout 60 patients ) diagnosed with SLE based on 2019 EULAR/ACR criteria, each with at least one cutaneous manifestation. |
| Group B (Healthy Controls) | – | Diagnostic Test: TREX1 gene polymorphisms30 age- and sex-matched healthy controls with no personal or family history of autoimmune disease and negative ANA and anti-dsDNA. |
Who may qualify
- Ages
- 18 to 60 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult
- 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.
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (3 listed)
- Overlap autoimmune syndromes (e.g., dermatomyositis, systemic sclerosis).
- Systemic infection, malignancy, or pregnancy.
- Use of biologic therapy or immunosuppressive pulses within one month.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| TREX1 gene polymorphismsAlso: anti-dsDNA, anti-Sm, anti-Ro/SSA, anti-La/SSBTo 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 | Diagnostic test | Group A : (Systemic Lupus Erythrematosus), Group B (Healthy Controls) |
Primary outcome
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
TREX1 gene polymorphism and SLE
Time frame: 3 Months
Assessment the association between TREX1 gene polymorphism and systemic lupus erythematosus susceptibility
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Feb 2026.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Eisa Mohammed Hegazy, Professor study chair
Dermatology, Venereology and Andrology. Faculty of Medicine,Qena University
Mohammed Hosny Hassan, Professor study director
Biochemistry ,Qena faculty of medicine ,south valley university
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Systemic Lupus Erythematosus, run by South Valley University at 1 site in Egypt.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 9 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Egypt. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Amira Rabea AbuElfadl, MSc (+201146299296, Amirarabea575@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Systemic Lupus Erythematosus Assessment (time frame: 3 Months). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Feb 2026.