Allogeneic Hematopoietic Stem Cell Transplant for GATA2 Mutations
Sponsor: National Cancer Institute (NCI) • ClinicalTrials.gov ID: NCT01861106
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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....
Interventions
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Allogeneic HSCT
(Procedure)
Stem cell transplant
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Busulfan Test dose
(Drug)
0.8 mg/kg IV infusion over 3 hours one time dose administered 5 to 14 days prior to start of preparative regimen (Days -11 to -20)
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Fludarabine (Fludara, Berlex Laboratories)
(Drug)
40 mg/m2 IV (in the vein) over 30 minutes (in the vein) once daily on Days -6, -5, -4, and -3 or 30 mg/m2 IV over 30 minutes (in the vein) once daily on Days -6, -5, -4, -3, and -2
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Busulfan (Busulfex)
(Drug)
3.2 mg/kg IV (in the vein) over 3 hours once daily on Days -6, -5, -4 and -3 (weight based dosing). If in Arm B and if poor or very poor risk clonal chromosomal abnormalities, busulfan will also be given on day -2.
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Cyclophosphamide (CTX, Cytoxan)
(Drug)
14.5 mg/kg IV (in the vein) infusion over 30 minutes once daily on days -6 and -5 (weight based dosing) or 50 mg/kg IV infusion over 2 hours on day -6 (weight based dosing). For post-transplant, 50/kg IV once daily x2 doses on days +3 and +4
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Total Body Irradiation (TBI)
(Procedure)
200 cGy on Day -1
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Mycophenolate mofetil (MMF)
(Drug)
15mg/kg IV over 2 hours BID starting on day +5 will continue until day +35 (+/- 2 days)
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Tacrolimus
(Drug)
0.02mg/kg IV continuous infusion over 24 hours starting on day +5 until day +180
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Equine Anti-Thymocyte Globulin
(Biological)
(Deleted this intervention per amendment I): 30mg/kg IV (in the vein)once daily x 3 days on Days -6, -5, -4 (3 doses total)
Eligibility criteria
Conditions
Locations
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States
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Data sourced from ClinicalTrials.gov, a service of the U.S. National Institutes of Health.
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