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

NCT07555405 | Not Yet Recruiting Phase 4 DMC

• 1 other identifier: IIT2026008
• Study Type: interventional
• Target: 6
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

MAGT1 Deficiency

Keywords

Decitabine

Outcome Measures

Primary Outcomes (3)

• Improvement magnitude of serum liver enzyme levels

  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.

  up to 6 months after the last dose

• Changes in NKG2D expression levels

  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.

  up to 6 months after the last dose

• Cumulative incidence of grade ≥3 myelosuppression

  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.

  up to 6-month follow-up period after the last dose

Secondary Outcomes (4)

• Changes in TUSC3 expression in peripheral blood lymphocytes

  up to 6-month after the last dose

• Increase in cytotoxic activity of NK cells/T cells

  up to 6 months after the last dose

• Cumulative incidence of coagulation dysfunction

  up to 6 months after the last dose

• Overall incidence rate of adverse events and severity grading

  up to 6 months after the last dose

Other Outcomes (2)

• Occurrence of infection events

  up to 6 months after the last dose

• Malignant tumor occurrence

  up to 6 months after the last dose

Study Arms (1)

Decitabine, Route of administration: Intravenous infusion

OTHER

Participants receive decitabine at a dose of 20 mg/m² once daily for five consecutive days per treatment cycle. Each dose is administered as a continuous intravenous infusion over at least one hour. Each cycle consists of five doses, and a total of four cycles are planned.

Drug: Decitabine

Interventions

Decitabine DRUG

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

Decitabine, Route of administration: Intravenous infusion

Eligibility Criteria

• Age: 1 Month - 18 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Children's Hospital of Fudan University: lead
• National Natural Science Foundation of China: collaborator

Study Sites (1)

Children's Hospital of Fudan University

Shanghai, Shanghai Municipality, 201102, China

Location

Related Publications (1)

• 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 BACKGROUND

MeSH Terms

Interventions

Decitabine

Intervention Hierarchy (Ancestors)

Azacitidine; Aza Compounds; Organic Chemicals; Cytidine; Pyrimidine Nucleosides; Pyrimidines; Heterocyclic Compounds, 1-Ring; Heterocyclic Compounds; Nucleosides; Nucleic Acids, Nucleotides, and Nucleosides; Ribonucleosides

Study Officials

• Jia Hou, Ph.D., M.D.

  Children's Hospital of Fudan University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Jia Hou, Ph.D., M.D.

CONTACT

86-21-64933338; doctorhoujia@hotmail.com

Wenjie Wang, M.D.

CONTACT

86-21-64931085; amazingmm@163.com

Study Design

• Study Type: interventional
• Phase: phase 4
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 31, 2026
• First Posted: April 29, 2026
• Study Start: April 1, 2026
• Primary Completion (Estimated): December 1, 2028
• Study Completion (Estimated): December 1, 2028
• Last Updated: April 29, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)