Phase II Study of Stem Cell Transplant Using Risk-Adjusted Chemotherapy for Fanconi Anemia Patients Without a Fully Matched Sibling Donor

What this Trial Is About

Researchers are studying a new approach to stem cell transplant treatment for patients with Fanconi Anemia FA, a condition that causes severe marrow failure, myelodysplastic syndrome, or acute myelogenous leukemia. This phase II trial aims to find out if using lower doses of busulfan and removing cyclosporine can reduce transplant-related side effects while maintaining effective disease control. Patients will receive a risk-adjusted chemotherapy regimen combined with a specialized stem cell transplant from mismatched related or matched unrelated donors. The treatment includes three groups based on age and disease status. Younger patients with marrow aplasia or single lineage cytopenias receive standard busulfan doses plus cyclophosphamide, fludarabine, rabbit ATG before transplant, and G-CSF after transplant. Patients with myelodysplastic syndrome MDS or acute myelogenous leukemia AML receive a higher busulfan dose with similar supporting drugs and procedures. Older patients get a slightly reduced busulfan dose. All patients receive peripheral blood stem cells that are T-cell depleted using a CD34 selection method via the Miltenyi CliniMACS device. Cyclosporine is not used to prevent graft-versus-host disease GVHD. Participants will be closely monitored over several years, with the main measurement being graft failure or rejection at five years post-transplant. Additional assessments include tracking severe complications and mortality up to two years after transplant. The study involves detailed pre-transplant evaluations such as heart, liver, kidney, and lung function tests, and ongoing evaluations during and after treatment. Enrollment includes children and adults starting from 3 months old, and all patients must provide informed consent to take part.

HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy