Autologous Gene Therapy for Artemis-Deficient SCID
This study aims to determine if a new method can be used to treat Artemis-deficient Severe Combined Immunodeficiency (ART-SCID), a severe form of primary immunodeficiency caused by mutations in the DCLRE1C gene. This method involves transferring a normal copy of the DCLRE1C gene into stem cells of an affected patient.
| Condition(s) | Severe Combined Immunodeficiency |
|---|---|
| Status | Recruiting |
| Phase | Phase 1, Phase 2 |
| Study type | Interventional |
| Summary | This study aims to determine if a new method can be used to treat Artemis-deficient Severe Combined Immunodeficiency (ART-SCID), a severe form of primary immunodeficiency caused by mutations in the DCLRE1C gene. This method involves transferring a normal copy of the DCLRE1C gene into stem cells of an affected patient. Participants will receive an infusion of stem cells transduced with a self-inactivating lentiviral vector that contains a normal copy of the DCLRE1C gene. Prior to the infusion they will receive sub-ablative, dose-targeted busulfan conditioning. The study will investigate if the procedure is safe, whether it can be done according to the methods described in the protocol, and whether the procedure will provide a normal immune system for the patient. A total of 24 newly diagnos |
| Who can participate | Inclusion Criteria: * ≥2.0 months of age at initiation of busulfan conditioning * New diagnosis of typical or minimally leaky ART-SCID, as defined by the criteria below: * Artemis deficiency with bi-allelic pathogenic or likely pathogenic mutations in DCLRE1C; AND * CD3 count \< 50 autologous cells/µL (typical ART-SCID) OR spontaneous maternal chimerism, OR CD3 count \>50/µL and \<300/uL and with restricted T cell receptor Vb diversity; AND * CD45 cell response to mitogens (PHA) \< 50% of the lower limit of normal range for the lab (leaky ART-SCID). * No medically eligible HLA-identical sibling with a normal immune system who could serve as an allogeneic bone marrow donor (applies to newly diagnosed patients only). Exclusion Criteria: * Presence of a medically eligible HLA-matched sibling |
| Ages | 2 Months |
| Sex | All |
| Lead sponsor | University of California, San Francisco |
| Locations | San Francisco, California, United States |
| Start date | 2018-05-31 |
| NCT ID | NCT03538899 |
| Official listing | https://clinicaltrials.gov/study/NCT03538899 |