This study evaluates a stem cell gene therapy (gene-transduced CD34+ stem cells) for treating X-Linked Severe Combined Immunodeficiency (XSCID). It included patients aged 1.5-20 with a mutation in the IL2RG gene. It was a Phase 1 study and has been completed.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
* INCLUSION CRITERIA: Patients must have XSCID as defined by either a deleterious mutation in IL2RG, the absence of or less than 5% of normal detectable gc protein, or evidence of functionally defective gc protein. Patients must be between 1.5 and 20 years of age. Patients must weigh at least 12 kg. Patients will have evidence of combined B-cell and T-cell immune deficiency over at least a 6 month period despite previous allogeneic BMT at least 12 months prior to study entry. T-cell immune deficiency is defined as one or more of the following: Total T-cell count less than 500/ul; less than 50% of normal value for in vitro mitogen stimulation; or absent proliferation in vitro to antigens. B-cell immune deficiency is defined as one or more of the following: IgM, IgA or IgE values which are 2 or more standard deviations below the established value for normal, IgG values falling to less than 30% of normal during unintended interruptions or delay in the periodic administration of IVIG; or documented failure to respond to a specific antigen challenge. Patients must have less than or equal to 3% of their mobilized CD34+ cells deriving from their allogeneic bone marrow donor. Willingness to remain hospitalized for several days to several weeks. Have a primary care physician at home. Consent to permit blood and/or tissue samples for storage. EXCLUSION CRITERIA: Any current or preexisting hematologic malignancy. Current treatment with any chemotherapeutic agent. Current treatment with any immunosuppressive agent, excluding corticosteroids. Documented HIV-1 infection. Documented Hepatitis B infection. Childhood malignancy (occurring before 18 years of age) in the patient or a first degree relative, or known genotype of the subject conferring a predisposition to cancer.