Children's Hospital of Fudan University
Shanghai, Shanghai Municipality, 201102, China
Location contact
Jia Hou, Ph.D., M.D.
CONTACT
Wenjie Wang, M.D.
CONTACT
Not Yet Recruiting
NCT Number: NCT07555405
Evaluating the Safety and Efficacy of Decitabine in the Treatment of XMEN Patients
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.
Not Yet Recruiting
Trial opening soon.
Get NotifiedKey information
Conditions
Age range
1 month–18 year
Sex eligibility
Male
Study type
Interventional
Phase
Phase 4
Primary location
About this study
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.
This 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/m² 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.
Who can participate
Healthy volunteers accepted: No
Only the study team can determine whether someone qualifies for participation.
Inclusion criteria
- Male participants aged 1 month to 18 years old.
- Confirmed MAGT1 gene mutation by genetic testing.
- Clinical manifestations consistent with XMEN disease, including liver dysfunction and/or EBV infection.
- Reduced lymphocyte NKG2D expression.
- Vital signs within normal range at screening.
- Expected survival ≥ 6 months.
- Able to comply with study procedures.
- Guardian and participant provide written informed consent.
Exclusion criteria
- Hypersensitivity to decitabine or any excipient.
- Hematopoietic stem cell transplantation within 1 year before enrollment.
- Severe concurrent organ dysfunction or systemic disease.
- Positive HBsAg, anti-HCV, syphilis, or HIV test.
- Neurological or psychiatric disorders that impair compliance.
- Participation in another clinical trial within 3 months.
- Other conditions judged inappropriate by the investigator.
Treatment and study plan
decitabine
DrugDecitabine 20 mg/m² intravenous infusion once daily for 5 consecutive days every 4 weeks, for a total of 4 cycles.
Primary outcomes
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Improvement magnitude of serum liver enzyme levels
Time frame: up to 6 months after the last dose
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) / baseline value] × 100%) at each time point, and evaluate the trend of liver function recovery.
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Changes in NKG2D expression levels
Time frame: up to 6 months after the last dose
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.
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Cumulative incidence of grade ≥3 myelosuppression
Time frame: up to 6-month follow-up period after the last dose
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) <1.0×10^9/L or platelet count (PLT) <25×10^9/L in complete blood count (CBC). The proportion of patients meeting the above criteria was statistically analyzed.
Secondary outcomes
-
Changes in TUSC3 expression in peripheral blood lymphocytes
Time frame: up to 6-month after the last dose
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/downregulation trends and relative change magnitudes at each key node (corresponding to primary endpoints) compared to baseline.
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Increase in cytotoxic activity of NK cells/T cells
Time frame: up to 6 months after the last dose
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.
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Cumulative incidence of coagulation dysfunction
Time frame: up to 6 months after the last dose
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).
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Overall incidence rate of adverse events and severity grading
Time frame: up to 6 months after the last dose
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.
Other outcomes
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Occurrence of infection events
Time frame: up to 6 months after the last dose
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.
-
Malignant tumor occurrence
Time frame: up to 6 months after the last dose
The diagnosis time, pathological type, and clinical stage of newly developed malignant tumors will be recorded.
Study contacts
Contact information is provided by the study sponsor or research team.
Jia Hou, Ph.D., M.D.
CONTACT
Wenjie Wang, M.D.
CONTACT
Sponsors and collaborators
Lead sponsor
Children's Hospital of Fudan University
Other
Collaborators
- National Natural Science Foundation of China
Registry information
Official study title
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
Important dates
- Study start
- 2026
- Primary completion
- 2028
- Study completion
- 2028
- First posted
- Apr 29, 2026
- Registry last updated
- Apr 29, 2026
OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.
View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.