Evaluating the Safety and Efficacy of Decitabine in the Treatment of XMEN Patients

Condition(s) studied

Investigational drug(s) / intervention(s)

Decitabine: Decitabine 20 mg/m² intravenous infusion once daily for 5 consecutive days every 4 weeks, for a total of 4 cycles.

Study summary

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.

Eligibility

Primary outcome measure(s)

• Improvement magnitude of serum liver enzyme levels — 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.
• Changes in NKG2D expression levels — 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.
• Cumulative incidence of grade ≥3 myelosuppression — 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.

Trial sites (1)

More Children's Hospital of Fudan University trials in China