Stem Cell Transplant Treatment for Patients Aged 6 to 70 With GATA2 Gene Mutations or MonoMAC Syndrome

What this Trial Is About

Researchers are evaluating allogeneic hematopoietic stem cell transplantation HSCT as a treatment for patients with mutations in the GATA2 gene or the clinical syndrome known as MonoMAC. This condition causes immune system deficiencies and increases the risk of serious infections and blood cancers like myelodysplastic syndrome MDS and leukemia. The study aims to determine if this transplant approach can restore normal blood cell production and reverse disease symptoms by one year after transplant. Participants will receive stem cell transplants from donors matched by specific immune system markers HLA. There are different treatment plans depending on donor matching, involving chemotherapy and radiation conditioning before receiving the donor stem cells. After the transplant, patients will receive medications to prevent graft-versus-host disease GVHD. The transplant and post-transplant care include detailed drug regimens and monitoring, with hospital stays until the patient stabilizes. During the trial, participants will undergo physical exams, blood tests, imaging, and other assessments before and after transplant. Frequent monitoring will occur especially in the first six months, with less frequent follow-ups afterward. Researchers will measure successful engraftment, immune system recovery, disease outcomes, and safety over several years. The total participation duration may extend up to five years for long-term survival and health evaluations.

Allogeneic Hematopoietic Stem Cell Transplant for GATA2 Mutations