X-linked MAGT1 deficiency with increased susceptibility to EBV infection and N-linked glycosylation defect,XMEN
Conditions
Interventions
Intervention Group:Decitabine
Sponsors
children's hospital of fudan university
Eligibility
Sex/Gender
Male
Age
No minimum to 18 Years
Inclusion criteria
Inclusion criteria: 1. Male patients aged 1 month to 18 years (inclusive); 2. Genetic testing confirms a MAGT1 gene mutation; 3. Presence of the following clinical manifestations: abnormal liver function and/or EBV infection, and/or clinical features of other X-linked disorders; 4. Reduced NKD2G expression levels in the patient; 5. At screening, the patient’s vital signs (respiration, heart rate, blood pressure) should be within normal limits; 6. Expected survival of >= 6 months; 7. Ability to comply with the study protocol (as determined by the investigator); 8. Both the participant and the legal guardian consent to participation in this study and voluntarily sign the informed consent form.
Exclusion criteria
Exclusion criteria: 1. Known or suspected hypersensitivity to decitabine or any of the excipients; 2. Received a hematopoietic stem cell transplant within 1 year prior to the first dose, or is scheduled to receive a hematopoietic stem cell transplant during the study; 3. Concurrent severe liver or kidney disease, cardiovascular disease, or other severe systemic diseases; 4. Positive test results for hepatitis B surface antigen (HBsAg), hepatitis C antibodies, syphilis, or HIV at screening or within 3 months prior to the first administration of the study drug; 5. Concurrent neurological or psychiatric disorders that render the patient unable or unwilling to cooperate; 6. Participation in another clinical trial within 3 months prior to this study; 7. The investigator determines that the patient is unsuitable for participation in this clinical study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Cumulative incidence of Grade >= 3 myelosuppression;Change from baseline in NKG2D expression levels on peripheral blood lymphocytes;Degree of improvement in serum liver enzyme levels (ALT/AST/?-GT); | — |
Secondary
| Measure | Time frame |
|---|---|
| Overall incidence and severity grading of adverse events (AEs);Changes in TUSC3 mRNA and protein expression in peripheral blood lymphocytes; | — |
Countries
China
Contacts
Public ContactHou Jia
children's hospital of fudan university
Outcome results
None listed