MAGT1 DeficiencyPhase 4NCT07555405
Evaluating the Safety and Efficacy of Decitabine in the Treatment of XMEN Patients
A Phase 4 study testing Decitabine in people with MAGT1 Deficiency, run by Children's Hospital of Fudan University at 1 site in China.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 month to 18 years, men only
- Conditions the study is for
- MAGT1 Deficiency
- What is being tested?
- Decitabine
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 6 participants
- Where
- 1 siteChina
- Study dates
- Apr 2026to Dec 2028
- Phase
- Phase 4
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 month to 18 years
- Men only
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
China1 site
Children's Hospital of Fudan University
Shanghai, Shanghai Municipality, 201102
Jia Hou, Ph.D., M.D., 86-21-64933338, doctorhoujia@hotmail.com
Wenjie Wang, M.D., 86-21-64931085, amazingmm@163.com
About this study
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
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.
Read the 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.
- Conditions
- MAGT1 Deficiency
- Being tested
- Decitabine
- Keywords
- Decitabine
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
DecitabineDrug
Decitabine 20 mg/m² intravenous infusion once daily for 5 consecutive days every 4 weeks, for a total of 4 cycles.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Drug: Decitabine |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: up to 6-month follow-up period after the last dose
Secondary outcomes (4)
Changes in TUSC3 expression in peripheral blood lymphocytes
Quantitative analysis of relative mRNA expression levels (using real-time fluorescent quantitative PCR) and protein expression levels (using Western blot) was performed to describe the upregulation/downregulation trends and relative change magnitudes at each key node (corresponding to primary endpoints) compared to baseline.
Measured: up to 6-month after the last dose
Increase in cytotoxic activity of NK cells/T cells
Cytotoxic function assays were used to detect cytotoxic activity (expressed as kill rate%), and the absolute increase values (target time point kill rate-baseline kill rate) at each key node (same as primary endpoint) were calculated compared to baseline.
Measured: up to 6 months after the last dose
Cumulative incidence of coagulation dysfunction
Prolonged prothrombin time (PT)> 3 seconds, prolonged activated partial thromboplastin time (APTT)> 10 seconds, or international normalized ratio (INR)> 1.5 in coagulation function tests. The proportion of patients meeting any one of these criteria was statistically analyzed at each key node (corresponding to primary endpoints).
Measured: up to 6 months after the last dose
Overall incidence rate of adverse events and severity grading
The occurrence time, duration, severity (graded according to CTCAE version 5.0), and association with the study drug (definitively related, possibly related, or unrelated) of AE were recorded. The overall incidence rate and the composition ratio of AE at each severity level were statistically analyzed.
Measured: up to 6 months after the last dose
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Apr 2026
- Study startApr 2026 (estimated)
- Primary completionDec 2028 (estimated)
- Study completionDec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for MAGT1 DeficiencyStudies of the same condition, open and under way.
- More trials run by Children's Hospital of Fudan UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 4
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 6 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Children's Hospital of Fudan University
- Sponsor type
- University, hospital or other
- Collaborators
- National Natural Science Foundation of China
- Responsible party
- Sponsor
- Investigators
- Jia Hou, Ph.D., M.D., Principal investigator, Children's Hospital of Fudan University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07555405
- Sponsor's protocol ID
- IIT2026008
- Status last verified
- Apr 2026
- First submitted
- 31 Mar 2026
- Last updated
- 29 Apr 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
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.
PubMed 37086924
Study at a glance
From the registry record, last updated by the sponsor on 29 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT07555405
- Acronym / sponsor ID
- IIT2026008
- Conditions
- MAGT1 Deficiency
- Keywords
- Decitabine
- Phase
- Phase 4
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 6 participants (estimated)
- Lead sponsor
- Children's Hospital of Fudan UniversityUniversity, hospital or other
- Collaborators
- National Natural Science Foundation of China
- Study start
- Apr 2026 (estimated)
- Primary completion
- Dec 2028 (estimated)
- Study completion
- Dec 2028 (estimated)
- First posted
- 29 Apr 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Decitabine, Route of administration: Intravenous infusion | Other | Drug: DecitabineParticipants 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. |
Who may qualify
- Ages
- 1 month to 18 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (8 listed)
- 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.
Key exclusion criteria (7 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| DecitabineDecitabine 20 mg/m² intravenous infusion once daily for 5 consecutive days every 4 weeks, for a total of 4 cycles. | Drug | Decitabine, Route of administration: Intravenous infusion |
Primary outcome
Improvement magnitude of serum liver enzyme levels
Time frame: 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
Time frame: 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
Time frame: 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.
4 secondary outcomes
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Apr 2026.
- Background: PubMed 37086924Ding 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.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Jia Hou, Ph.D., M.D. principal investigator
Children's Hospital of Fudan University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 4 study testing Decitabine in people with MAGT1 Deficiency, run by Children's Hospital of Fudan University at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 29 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 4 studies take place after a treatment is approved, to learn more about its long-term benefits and risks in everyday use.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Jia Hou, Ph.D., M.D. (86-21-64933338, doctorhoujia@hotmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Improvement magnitude of serum liver enzyme levels (time frame: up to 6 months after the last dose). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07555405, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Apr 2026.