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Not yet recruiting NCT07555405

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

Phase IV Interventional MAGT1 Deficiency

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: Decitabine.
Who it may be relevant to
Registry conditions: MAGT1 Deficiency. Basic parameters: 1 months — 18 years · Male.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
China
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

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Official 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

Overview

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.

Detailed description

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.

Interventions

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

Primary outcome measures

  • Improvement magnitude of serum liver enzyme levels [Time frame: up to 6 months after the last dose]
  • Changes in NKG2D expression levels [Time frame: up to 6 months after the last dose]
  • Cumulative incidence of grade ≥3 myelosuppression [Time frame: up to 6-month follow-up period after the last dose]
Secondary outcome measures (4)
  • Changes in TUSC3 expression in peripheral blood lymphocytes [Time frame: up to 6-month after the last dose]
  • Increase in cytotoxic activity of NK cells/T cells [Time frame: up to 6 months after the last dose]
  • Cumulative incidence of coagulation dysfunction [Time frame: up to 6 months after the last dose]
  • Overall incidence rate of adverse events and severity grading [Time frame: up to 6 months after the last dose]

Eligibility criteria

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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Allocation
N/A
Model
Single group
Masking
Open label
Primary purpose
Treatment

Study locations

China · 1 center
  • Children's Hospital of Fudan University — Shanghai

Publications

  • Ding H, Li Y, Fang M, Chen J, Liu L, Lu Z, Hou J, Luo M. Epigenetic activation of the TUSC3 gene as a potential therapy for XMEN disease. J Allergy Clin Immunol. 2023 Jun;151(6):1622-1633.e10. doi: 10.1016/j.jaci.2023.04.003. Epub 2023 Apr 21. PMID 37086924

Identifiers

NCT: NCT07555405 · IIT2026008

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗