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
Sex
MALE
Min age
1 Month
Max age
18 Years
Healthy volunteers
No
Inclusion Criteria:
1. Male participants aged 1 month to 18 years old.
2. Confirmed MAGT1 gene mutation by genetic testing.
3. Clinical manifestations consistent with XMEN disease, including liver dysfunction and/or EBV infection.
4. Reduced lymphocyte NKG2D expression.
5. Vital signs within normal range at screening.
6. Expected survival ≥ 6 months.
7. Able to comply with study procedures.
8. Guardian and participant provide written informed consent.
Exclusion Criteria:
1. Hypersensitivity to decitabine or any excipient.
2. Hematopoietic stem cell transplantation within 1 year before enrollment.
3. Severe concurrent organ dysfunction or systemic disease.
4. Positive HBsAg, anti-HCV, syphilis, or HIV test.
5. Neurological or psychiatric disorders that impair compliance.
6. Participation in another clinical trial within 3 months.
7. Other conditions judged inappropriate by the investigator.
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)
Facility
City
Region
Status
Children's Hospital of Fudan University
Shanghai
Shanghai Municipality
More Children's Hospital of Fudan University trials in China
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
We use cookies to analyse site traffic and improve your experience. With your consent, we may also use cookies for advertising. You can change your choice at any time on our Cookie Policy page. See also our Privacy Policy.