Phase I/II clinical trial of autologous hematopoietic stem cell gene therapy in rag1-deficient severe combined immunodeficiency

Severe combined immunodeficiency based on genetic defect in the Recombinase Activating Gene 1 (RAG1)

Overall survival Evaluation of immune reconstitution at Month 6 defined as -Presence of naive CD4+ T cells -Total CD3+ T-cells > 300 cells/µL -Total CD4+ T-cells > 200 cells/µL

Event-free survival (survival without the need for rescue treatment defined as infusion of autologous unmanipulated backup stem cell product and/or allogeneic HSCT), Independence from immunoglobulin substitution at Month 24, Serologic response to vaccination, Immune system reconstitution o T-cell repopulation: -Total CD3+ T-cells > 300 cells/µL (at Month 12, 18, 24, 30, 36, 42, 48, 54, 60) - Total CD4+ T-cells > 200 cells/µL (at Month 12, 18, 24, 30, 36, 42, 48, 54, 60) - Presence of naive CD4+ T cells (at Month 12, 18, 24, 30, 36, 42, 48, 54, 60), o B-cell repopulation: - Total B-cell counts (at Month 6, 12, 18, 24, 30, 36, 42, 48, 54, 60) - Memory B-cell count (at Month 6, 12, 18, 24, 30, 36, 42, 48, 54, 60) - Switched memory B-cell count (at Month 6, 12, 18, 24, 30, 36, 42, 48, 54, 60), o Immune function: - Level of IgG (at Month 6, 12, 18, 24, 36, 48, 60) - Level of IgA (at Month 6, 12, 18, 24, 36, 48, 60) - Level of IgM (at Month 6, 12, 18, 24, 36, 48, 60) - IG repertoire and T cell receptor (TCR) repertoire on PBMCs at Month 12, Pharmacodynamics o Vector copy number (VCN) in PBMCs and granulocytes o TRECs and KRECs, Quality of Life: Change from baseline in PedsQL

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