[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100623522":3},{"organization":4,"outcomesModule":7,"designInfo":17,"detailedDescription":20,"studyPopulation":21,"armGroups":22,"interventions":32,"overallOfficials":40,"centralContacts":49,"locations":59,"responsibleParty":82,"collaborators":16,"id":86,"slug":16,"hasResults":87,"nctId":88,"briefTitle":89,"officialTitle":90,"acronym":16,"eligibilityCriteria":91,"healthyVolunteers":92,"sex":93,"minAge":94,"maxAge":95,"enrollmentInfo":96,"targetDuration":16,"studyType":99,"phases":16,"briefSummary":100,"conditions":101,"keywords":16,"overallStatus":62,"whyStopped":16,"lastUpdateSubmitDate":103,"lastUpdatePostDateStruct":104,"startDateStruct":107,"completionDateStruct":109,"leadSponsor":111,"locationsCount":112},{"fullName":5,"class":6},"South Valley University","OTHER",{"primaryOutcomes":8,"secondaryOutcomes":16,"otherOutcomes":16},[9,13],{"measure":10,"description":11,"timeFrame":12},"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 :\n\n1-5 is Mild disease activity 6-10 is Moderate disease activity 11 or more is Severe disease activity","3 Months",{"measure":14,"description":15,"timeFrame":12},"TREX1 gene polymorphism and SLE","Assessment the association between TREX1 gene polymorphism and systemic lupus erythematosus susceptibility",null,{"allocation":16,"interventionModel":16,"interventionModelDescription":16,"primaryPurpose":16,"observationalModel":18,"timePerspective":19,"maskingInfo":16},"CASE_CONTROL","PROSPECTIVE","Cutaneous lesions are among the earliest and most frequent features of SLE, with over 70% of patients developing mucocutaneous involvement during their disease course.\n\nThe presence and severity of cutaneous manifestations have been associated with specific autoantibodies, such as anti-Ro\u002FSSA and anti-dsDNA, which may reflect underlying genetic susceptibility.\n\nRecent studies have also implicated gene polymorphisms in IRF5, STAT4, TREX1, and TNFA in the pathogenesis of cutaneous SLE phenotypes.\n\nDefective TREX1 exonuclease activity, leading to intracellular accumulation of DNA, may trigger type I interferon activation-a key mechanism in lupus pathophysiology.\n\nDespite the extensive global literature, data from Egyptian patients remain limited, especially regarding the relationship between TREX1 gene variants and cutaneous lupus phenotypes.\n\nUnderstanding how autoantibody profiles and gene polymorphisms relate to clinical features and disease activity could enhance early diagnosis, predict flares, and improve personalized therapy.","* Group A: 60 adults (18-60 years) diagnosed with SLE based on 2019 EULAR\u002FACR criteria, each with at least one cutaneous manifestation.\n* Group B: 30 age- and sex-matched healthy controls with no personal or family history of autoimmune disease and negative ANA and anti-dsDNA.",[23,28],{"label":24,"type":16,"description":25,"interventionNames":26},"Group A : (Systemic Lupus Erythrematosus)","About 60 patients ) diagnosed with SLE based on 2019 EULAR\u002FACR criteria, each with at least one cutaneous manifestation.",[27],"Diagnostic Test: TREX1 gene polymorphisms",{"label":29,"type":16,"description":30,"interventionNames":31},"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.",[27],[33],{"type":34,"name":35,"description":36,"armGroupLabels":37,"otherNames":38},"DIAGNOSTIC_TEST","TREX1 gene polymorphisms","To assess the prevalence of selected autoantibodies as (anti-dsDNA, anti-Sm, anti-Ro\u002FSSA, anti-La\u002FSSB) and TREX1 gene polymorphisms in SLE patients, and their association with clinical features and disease activity",[24,29],[39],"anti-dsDNA, anti-Sm, anti-Ro\u002FSSA, anti-La\u002FSSB",[41,45],{"name":42,"affiliation":43,"role":44},"Eisa Mohammed Hegazy, Professor","Dermatology, Venereology and Andrology. Faculty of Medicine,Qena University","STUDY_CHAIR",{"name":46,"affiliation":47,"role":48},"Mohammed Hosny Hassan, Professor","Biochemistry ,Qena faculty of medicine ,south valley university","STUDY_DIRECTOR",[50,55],{"name":51,"role":52,"phone":53,"phoneExt":16,"email":54},"Amira Rabea AbuElfadl, MSc","CONTACT","+201146299296","Amirarabea575@gmail.com",{"name":56,"role":52,"phone":57,"phoneExt":16,"email":58},"Soheir Abdel-hamid Ali, Lecturer","+201066877343","Soher.abdel-hamed@med.svu.edu.eg",[60],{"facility":61,"status":62,"city":63,"state":64,"zip":16,"country":65,"countryCode":66,"cosmosGeoPoint":67,"geoPoint":72,"contacts":73},"Qina University hospital, South Valley University Hospital","RECRUITING","Qina","South Valley","Egypt","EG",{"type":68,"coordinates":69},"Point",[70,71],32.72671,26.16418,{"lat":71,"lon":70},[74,78],{"name":75,"role":52,"phone":76,"phoneExt":16,"email":77},"Ebtehal Alaa El-din Kotp Mohammed, Lecturer","+201066798383","Ebtehal_alaa@med.svu.edu.eg",{"name":79,"role":52,"phone":80,"phoneExt":16,"email":81},"Shimaa Saber Ahmed, M.D","+201006393764","shimaasaber063@gmail.com",{"type":83,"investigatorFullName":84,"investigatorTitle":85,"investigatorAffiliation":5,"oldNameTitle":16,"oldOrganization":16},"PRINCIPAL_INVESTIGATOR","Amira Rabea AbuElfadl","Resident at Dermatology , venereology and andrology, Faculty of medicine","100623522",false,"NCT07397728","\" TREX1 Gene Mutations and Their Role in Systemic Lupus Erythematosus","TREX1 Gene Mutations and Their Role in Systemic Lupus Erythematosus: A Genotype-Phenotype Correlation Study","Inclusion Criteria:\n\n* Adult aged 18-60 years\n* Diagnosed as SLE per 2019 EULAR\u002FACR classification criteria.\n* Presence of at least one cutaneous manifestation (acute, subacute, or chronic).\n* Willing to provide written informed consent for participation and genetic testing\n\nExclusion Criteria:\n\n* Overlap autoimmune syndromes (e.g., dermatomyositis, systemic sclerosis).\n* Systemic infection, malignancy, or pregnancy.\n* Use of biologic therapy or immunosuppressive pulses within one month.",true,"ALL","18 Years","60 Years",{"count":97,"type":98},90,"ESTIMATED","OBSERVATIONAL","Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease characterized by diverse clinical manifestations, prominently involving the skin.",[102],"Systemic Lupus Erythematosus","2026-02-05",{"date":105,"type":106},"2026-02-09","ACTUAL",{"date":108,"type":106},"2025-06-10",{"date":110,"type":98},"2026-06-10",{"name":5,"class":6},1]