Actively Recruiting

Phase 2
Age: 6Years - 70Years
All Genders
NCT01861106

Allogeneic Hematopoietic Stem Cell Transplant for GATA2 Mutations

Led by National Cancer Institute (NCI) · Updated on 2026-05-07

144

Participants Needed

1

Research Sites

805 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

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.

CONDITIONS

Official Title

Allogeneic Hematopoietic Stem Cell Transplant for GATA2 Mutations

Who Can Participate

Age: 6Years - 70Years
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Age between 6 and 70 years
  • Mutation in the GATA2 gene or clinical syndrome of MonoMAC
  • History of at least one serious or disfiguring infection and/or bone marrow immunodeficiency with loss of monocytes, NK cells, or B-lymphocytes
  • Availability of a 10/10, 9/10, or 8/10 HLA-matched related or unrelated donor, or a haploidentical related donor
  • May have myelodysplastic syndrome with peripheral blood cytopenias and less than 10% bone marrow blasts
  • Patients referred in remission or with less than 10% blasts after treatment may proceed to transplant
  • Left ventricular ejection fraction greater than 40% within 90 days before conditioning
  • Adults: creatinine ≤ 2.0 mg/dL and creatinine clearance ≥ 30 mL/min; children: creatinine < 1.5 mg/dL and clearance > 30 mL/min/1.73m2
  • Serum conjugated bilirubin less than 2.5 mg/dL; ALT and AST ≤ 5 times upper limit of normal
  • Pulmonary function: FEV1 and DLCO > 30%, or no dyspnea at rest, no exercise intolerance, and no oxygen requirement in children unable to perform tests
  • Ability to understand and sign informed consent, or consent by legal guardian if minor
  • Agreement to use contraception before study and for one year after transplant
  • Willingness to stay at or near NIH hospital for at least 100 days post-transplant with caregiver support
Not Eligible

You will not qualify if you...

  • Receiving other investigational agents except virus-specific cytotoxic T-cells before transplant
  • HIV positive
  • History of allergic reactions to study drugs (steroids, cyclophosphamide, busulfan)
  • Chronic active hepatitis B with positive surface antigen without hepatology consultation
  • Psychiatric disorder affecting protocol compliance or consent
  • Active infection unresponsive to treatment
  • Active central nervous system malignancy
  • Pregnant or breastfeeding
  • Active malignancy outside hematopoietic system except virus-driven cancers controlled by transplant
  • No suitable matched or haploidentical donor available

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 1 location

1

National Institutes of Health Clinical Center

Bethesda, Maryland, United States, 20892

Actively Recruiting

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Research Team

D

Danielle E Pregent-Arnold, M.D.

CONTACT

How is the study designed?

Study Type

INTERVENTIONAL

Masking

NONE

Allocation

NON_RANDOMIZED

Model

PARALLEL

Primary Purpose

TREATMENT

Number of Arms

5

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