Allogeneic Hematopoietic Stem Cell Transplant for GATA2 Mutations

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
National Cancer Institute (NCI)
Study ID
NCT01861106
Phase
PHASE2
Status
Recruiting
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Conditions

  • GATA2
  • Immunodeficiency
  • MDS

Eligibility Criteria

Sex
ALL
Age
6 Years - 70 Years
Healthy Volunteers
Not accepted

Interventions

  • Allogeneic HSCT — PROCEDURE
    Stem cell transplant
  • 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)
  • 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
  • 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.
  • 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
  • Total Body Irradiation (TBI) — PROCEDURE
    200 cGy on Day -1
  • Mycophenolate mofetil (MMF) — DRUG
    15mg/kg IV over 2 hours BID starting on day +5 will continue until day +35 (+/- 2 days)
  • Tacrolimus — DRUG
    0.02mg/kg IV continuous infusion over 24 hours starting on day +5 until day +180
  • 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)

Study Details

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....

Key Dates

Start date
Jul 24, 2013
Status verified
Apr 2026
Primary completion
Dec 31, 2027
Completion
Dec 31, 2028

Study Design

Enrollment
144 participants (estimated)
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
TREATMENT

Arms

  • Active Comparator: Arm A
    10/10 HLA Matched Related Donor or Unrelated Donor or 9/10 HLA with DQ mismatch Transplant
  • Active Comparator: Arm B
    9/10 or 8/10 HLA Match Related Donor or Unrelated Donor or Haploidentical Donor Transplant
  • Active Comparator: Arm C (combined with Arm B per Amendment N)
    Haploidentical Related Donor Transplant
  • Active Comparator: Arm D (Deleted this arm per amendment I)
    Umbilical Cord Blood Transplant
  • No Intervention: Arm E (Deleted this arm per amendment O)
    Donor

Primary Outcome Measure

To determine whether allogeneic HSCT approach results in engraftment and restores normal hematopoiesis by one year in patients with mutations GATA2. [ Time Frame: 1 year after completing ASCT ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892-

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