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.
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.
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.
Children's Hospital of Fudan University
Lead sponsor
National Natural Science Foundation of China
Collaborator