Allogeneic Hematopoietic Stem Cell Transplant for GATA2 Mutations
Trial statusRecruiting
Trial phasePhase 2
Trial typeInterventional
Biological sexAll
Age6-70
SponsorNational Cancer Institute (NCI)
About this trial
Background:
\- GATA2 deficiency is a disease caused by mutations in the GATA2 gene. It can cause different types of leukemia and other diseases. Researchers want to see if a stem cell transplant can be used to treat this condition. A stem cell transplant will give stem cells from a matching donor (related or unrelated) to a recipient. It will allow the donor stem cells to produce healthy bone marrow and blood cells that will attack the recipient s cancer cells.
Objectives:
\- To see if stem cell transplants are successful at treating GATA2 mutations and related conditions.
Eligibility:
\- Recipients who are between 6 and 70 years of age and have GATA2 deficiency.
Design:
* All participants will be screened with a physical exam and medical history. Blood samples will be collected. Recipients will have imaging studies and other tests. * Recipients will have chemotherapy or radiation to prepare for the transplant. On the day of the transplant, they will receive the donated stem cells. * Recipients will stay in the hospital until their condition is stable after transplant. * Frequent blood tests and scans will be required for the first 6 months after the transplant, followed by less frequent visits over time.
Eligibility criteria
Qualifiers
Recipient
Patient age of 6-70 years.
Mutation in the GATA2 gene, or evidence of loss of expression of one allele of GATA2, by cDNA analysis performed by a CLIA certified laboratory, or the clinical syndrome of MonoMAC.
Clinical history of at least one serious or disfiguring infection and/or GATA2 bone marrow immunodeficiency disorder with lose of one or more immune populations in the bone marrow including monocytes, Natural Killer (NK) cells, and B-lymphocytes, with or without additional cytopenias involving the red blood cell, neutrophil, or platelet compartment.
Disqualifiers
Recipient
Patients who are receiving any other investigational agents with the exception of virus- specific cytotoxic T-cells for the treatment of viral infection/reactivation prior to allo HSCT
HIV-positive patients are ineligible because these patients are at increased risk of lethal infections when treated with marrow-suppressive therapy. Appropriate studies will be undertaken in patients receiving combination antiretroviral therapy when indicated.
History of allergic reactions attributed to compounds of similar chemical or biological composition to agents (steroids, cyclophosphamide, busulfan) used in the study
Trial design
Treatments tested in this trial
- Allogeneic HSCT
- Busulfan Test dose
- Fludarabine (Fludara, Berlex Laboratories)
- Busulfan (Busulfex)
- Cyclophosphamide (CTX, Cytoxan)
- Total Body Irradiation (TBI)
- Mycophenolate mofetil (MMF)
- Tacrolimus
- Equine Anti-Thymocyte Globulin
Treatment groups
144 Participants
are divided into 5 treatment groupsSponsors and collaborators
Source ClinicalTrials.gov