ADA deficiency Severe Combined Immunodeficiency
Conditions
Interventions
Case series:Gene-modified autologous stem cells Infusion
Sponsors
Beijing Children's Hospital
Eligibility
Sex/Gender
All
Age
0.1 Years to 10 Years
Inclusion criteria
Inclusion criteria: 1. Diagnosis of ADA-SCID with pathogenic ADA mutations; 2. No available HLA matched sibling/family donor; 3. No available ADA ERT; 4. No cytogenetic abnormalities (medullary karyotype) and no detection of main rearrangements associated with acute leukemia of children; 5. No prior allogeneic stem cell transplantation; 6. Life expectancy = 3 months; 7. Documented to be negative for HIV infection by genome PCR; 8. Written, informed consent obtained prior to any study-specific procedures.
Exclusion criteria
Exclusion criteria: 1. No available molecular diagnosis confirming ADA-SCID; 2. Existence of an available HLA-identical related donor; 3. Diagnosis of malignant disease other than EBV-associated lymphoproliferative disease; 4. Current treatment with any chemotherapeutic agent (becomes eligible if not on treatment for at least 1 month); 5. Patients with evidence of infection with HIV-1 or 2; 6. Active hepatitis B infection; 7. Presence of a medical condition indicating that survival will be less than 3 months such as the requirement for mechanical ventilation, severe failure of a major organ system, or evidence of a serious, progressive infection that is refractory to medical therapy; 8. Current treatment with any immunosuppressive agent, excluding corticosteroids; 9. Patients, in the opinion of investigators, may not be eligible or not able to comply with the study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| improvement of ADA activity; | — |
Secondary
| Measure | Time frame |
|---|---|
| Adverse events during the gene therapy;Efficacy of immune reconstitution; | — |
Countries
China
Contacts
Public ContactHuyong Zheng
Beijing Children's Hospital
Outcome results
None listed