[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100635647":3},{"organization":4,"outcomesModule":7,"designInfo":41,"detailedDescription":48,"studyPopulation":44,"armGroups":49,"interventions":55,"overallOfficials":61,"centralContacts":65,"locations":74,"responsibleParty":90,"collaborators":92,"id":96,"slug":44,"hasResults":97,"nctId":98,"briefTitle":99,"officialTitle":100,"acronym":44,"eligibilityCriteria":101,"healthyVolunteers":97,"sex":102,"minAge":103,"maxAge":104,"enrollmentInfo":105,"targetDuration":44,"studyType":108,"phases":109,"briefSummary":111,"conditions":112,"keywords":114,"overallStatus":115,"whyStopped":44,"lastUpdateSubmitDate":116,"lastUpdatePostDateStruct":117,"startDateStruct":120,"completionDateStruct":122,"leadSponsor":124,"locationsCount":125},{"fullName":5,"class":6},"Children's Hospital of Fudan University","OTHER",{"primaryOutcomes":8,"secondaryOutcomes":20,"otherOutcomes":34},[9,13,16],{"measure":10,"description":11,"timeFrame":12},"Improvement magnitude of serum liver enzyme levels","Analyze serum alanine aminotransferase (ALT), aspartate aminotransferase (AST), and γ-glutamyl transferase (γ-GT) levels at key time points (before the second dose, before the fourth dose, 3 months after the last dose, and 6 months after the last dose) calculate the reduction magnitude from baseline (\\[(baseline value-target time point value) \u002F baseline value\\] × 100%) at each time point, and evaluate the trend of liver function recovery.","up to 6 months after the last dose",{"measure":14,"description":15,"timeFrame":12},"Changes in NKG2D expression levels","Changes in NKG2D expression levels of peripheral blood lymphocytes from baseline; the expression levels were analyzed before the second administration, before the fourth administration, and 3 months after the last administration, and the absolute change values from baseline were calculated for each time point.",{"measure":17,"description":18,"timeFrame":19},"Cumulative incidence of grade ≥3 myelosuppression","Classified according to the Common Terminology Criteria for Adverse Events (CTCAE) version 5.0, with observation periods covering the entire treatment duration (4 dosing cycles) and a 6-month follow-up period after the last dose. Criteria for determination: White blood cell count (WBC) \\\u003C1.0×10\\^9\u002FL or platelet count (PLT) \\\u003C25×10\\^9\u002FL in complete blood count (CBC). The proportion of patients meeting the above criteria was statistically analyzed.","up to 6-month follow-up period after the last dose",[21,25,28,31],{"measure":22,"description":23,"timeFrame":24},"Changes in TUSC3 expression in peripheral blood lymphocytes","Quantitative analysis of relative mRNA expression levels (using real-time fluorescent quantitative PCR) and protein expression levels (using Western blot) was performed to describe the upregulation\u002Fdownregulation trends and relative change magnitudes at each key node (corresponding to primary endpoints) compared to baseline.","up to 6-month after the last dose",{"measure":26,"description":27,"timeFrame":12},"Increase in cytotoxic activity of NK cells\u002FT cells","Cytotoxic function assays were used to detect cytotoxic activity (expressed as kill rate%), and the absolute increase values (target time point kill rate-baseline kill rate) at each key node (same as primary endpoint) were calculated compared to baseline.",{"measure":29,"description":30,"timeFrame":12},"Cumulative incidence of coagulation dysfunction","Prolonged prothrombin time (PT)\\> 3 seconds, prolonged activated partial thromboplastin time (APTT)\\> 10 seconds, or international normalized ratio (INR)\\> 1.5 in coagulation function tests. The proportion of patients meeting any one of these criteria was statistically analyzed at each key node (corresponding to primary endpoints).",{"measure":32,"description":33,"timeFrame":12},"Overall incidence rate of adverse events and severity grading","The occurrence time, duration, severity (graded according to CTCAE version 5.0), and association with the study drug (definitively related, possibly related, or unrelated) of AE were recorded. The overall incidence rate and the composition ratio of AE at each severity level were statistically analyzed.",[35,38],{"measure":36,"description":37,"timeFrame":12},"Occurrence of infection events","Infections are classified according to etiological detection results (EBV infection, bacterial infection, other infections), and the frequency, severity, and treatment outcomes of each type of infection are recorded.",{"measure":39,"description":40,"timeFrame":12},"Malignant tumor occurrence","The diagnosis time, pathological type, and clinical stage of newly developed malignant tumors will be recorded.",{"allocation":42,"interventionModel":43,"interventionModelDescription":44,"primaryPurpose":45,"observationalModel":44,"timePerspective":44,"maskingInfo":46},"NA","SINGLE_GROUP",null,"TREATMENT",{"masking":47,"maskingDescription":44,"whoMasked":44},"NONE","XMEN disease is a rare X-linked primary immunodeficiency caused by loss-of-function mutations in MAGT1, leading to chronic Epstein-Barr virus (EBV) infection, liver dysfunction, and reduced NKG2D expression on lymphocytes. TUSC3 shares functional redundancy with MAGT1 but is epigenetically silenced in immune and liver tissues. Decitabine, a DNA methyltransferase inhibitor, can reactivate TUSC3 expression.\n\nThis single-arm, open-label, single-center study will enroll six male participants aged 1 month to 18 years with genetically confirmed MAGT1 mutation and a clinically diagnosis of XMEN disease. Eligible participants will receive decitabine intravenously at 20 mg\u002Fm² once daily for five consecutive days every four weeks, for a total of four cycles. Safety and efficacy will be evaluated by monitoring NKG2D expression, liver enzymes levels, EBV viral load, lymphocyte function, TUSC3 expression, and adverse events. Participants will be followed for 180 days after the last dose.",[50],{"label":51,"type":6,"description":52,"interventionNames":53},"Decitabine, Route of administration: Intravenous infusion","Participants receive decitabine at a dose of 20 mg\u002Fm² once daily for five consecutive days per treatment cycle. Each dose is administered as a continuous intravenous infusion over at least one hour. Each cycle consists of five doses, and a total of four cycles are planned.",[54],"Drug: Decitabine",[56],{"type":57,"name":58,"description":59,"armGroupLabels":60,"otherNames":44},"DRUG","Decitabine","Decitabine 20 mg\u002Fm² intravenous infusion once daily for 5 consecutive days every 4 weeks, for a total of 4 cycles.",[51],[62],{"name":63,"affiliation":5,"role":64},"Jia Hou, Ph.D., M.D.","PRINCIPAL_INVESTIGATOR",[66,70],{"name":63,"role":67,"phone":68,"phoneExt":44,"email":69},"CONTACT","86-21-64933338","doctorhoujia@hotmail.com",{"name":71,"role":67,"phone":72,"phoneExt":44,"email":73},"Wenjie Wang, M.D.","86-21-64931085","amazingmm@163.com",[75],{"facility":5,"status":44,"city":76,"state":77,"zip":78,"country":79,"countryCode":80,"cosmosGeoPoint":81,"geoPoint":86,"contacts":87},"Shanghai","Shanghai Municipality","201102","China","CN",{"type":82,"coordinates":83},"Point",[84,85],121.45806,31.22222,{"lat":85,"lon":84},[88,89],{"name":63,"role":67,"phone":68,"phoneExt":44,"email":69},{"name":71,"role":67,"phone":72,"phoneExt":44,"email":73},{"type":91,"investigatorFullName":44,"investigatorTitle":44,"investigatorAffiliation":44,"oldNameTitle":44,"oldOrganization":44},"SPONSOR",[93],{"name":94,"class":95},"National Natural Science Foundation of China","OTHER_GOV","100635647",false,"NCT07555405","Evaluating the Safety and Efficacy of Decitabine in the Treatment of XMEN Patients","Single-arm Clinical Study Evaluating the Safety and Efficacy of Decitabine in the Treatment of X-linked MAGT1 Deficiency With Increased Susceptibility to EBV Infection and N-linked Glycosylation Defect (XMEN) Patients","Inclusion Criteria:\n\n1. Male participants aged 1 month to 18 years old.\n2. Confirmed MAGT1 gene mutation by genetic testing.\n3. Clinical manifestations consistent with XMEN disease, including liver dysfunction and\u002For EBV infection.\n4. Reduced lymphocyte NKG2D expression.\n5. Vital signs within normal range at screening.\n6. Expected survival ≥ 6 months.\n7. Able to comply with study procedures.\n8. Guardian and participant provide written informed consent.\n\nExclusion Criteria:\n\n1. Hypersensitivity to decitabine or any excipient.\n2. Hematopoietic stem cell transplantation within 1 year before enrollment.\n3. Severe concurrent organ dysfunction or systemic disease.\n4. Positive HBsAg, anti-HCV, syphilis, or HIV test.\n5. Neurological or psychiatric disorders that impair compliance.\n6. Participation in another clinical trial within 3 months.\n7. Other conditions judged inappropriate by the investigator.","MALE","1 Month","18 Years",{"count":106,"type":107},6,"ESTIMATED","INTERVENTIONAL",[110],"PHASE4","This is a single-arm, open-label, single-center, exploratory clinical trial evaluating the safety and efficacy of decitabine in male patients aged 1 month to 18 years with X-linked magnesium transporter 1 (MAGT1) deficiency. Eligible patients have a confirmed MAGT1 gene mutation leading to XMEN disease ( X-linked MAGT1 deficiency with increased susceptibility to Epstein-Barr virus (EBV) infection and N-linked glycosylation defect). The study will assess changes in liver function, immune function, and NKG2D expression, as well as adverse events, over four treatment cycles and the follow-up period.",[113],"MAGT1 Deficiency",[58],"NOT_YET_RECRUITING","2026-04-24",{"date":118,"type":119},"2026-04-29","ACTUAL",{"date":121,"type":107},"2026-04",{"date":123,"type":107},"2028-12",{"name":5,"class":6},1]