eligibility_summary
Eligible: age 6–70, NIH-confirmed deleterious GATA2 germline plus ≥1 of: severe/recurrent infxns, low mono/B/NK cells, or WHO MDS, early-stage marrow (<5% blasts, normal/favorable cytogenetics [+8]), HLA-matched or haplo donor, PS ≥40%, LVEF >40%, adequate organ fxn, contraception, stop breastfeeding, stay near NIH 100 days, controlled HBV/HCV ok. Exclude: HCT-CI >8, recent investigational drugs, AML/CMML, active non–virus-driven cancer, HIV, pregnancy, drug allergy to study meds.
trial_source
clinical_trials.gov from Dec 2, 2025
annotation_status
ai
ai_summary
Trial: Allogeneic HSCT with briquilimab‑based conditioning for GATA2 deficiency. Interventions and mechanisms: Briquilimab (humanized IgG1 anti‑CD117/c‑Kit mAb) depletes endogenous HSCs by targeting c‑Kit on HSCs to open marrow niches, Fludarabine (purine analog antimetabolite) inhibits DNA synthesis and lymphocytes for lymphodepletion, Cyclophosphamide pre‑transplant (alkylating DNA crosslinker) augments conditioning, post‑transplant cyclophosphamide selectively kills proliferating alloreactive T cells for GVHD prophylaxis, Total body irradiation (200 cGy) adds myeloablation via DNA damage, Tacrolimus (calcineurin inhibitor) blocks IL‑2 transcription and T‑cell activation, Mycophenolate mofetil (IMPDH inhibitor) blocks de novo guanine synthesis, suppressing T/B cells, Procedure: allogeneic HSCT to reconstitute hematopoiesis. Targets/pathways: c‑Kit+ HSCs, DNA synthesis/repair, TCR–calcineurin–NFAT signaling, IMPDH‑mediated purine synthesis, alloreactive T cells.