A novel GATA2 distal enhancer mutation results in MonoMAC syndrome in 2 second cousins.
Robert R West, Thomas R Bauer, Laura M Tuschong...
https://pubmed.ncbi.nlm.nih.gov/37595058Actively Recruiting
Phase 2
Age: 6Years - 70Years
All Genders
ID01861106
Allogeneic Hematopoietic Stem Cell Transplant for Patients With Mutations in GATA2 or the MonoMAC Syndrome
Led by National Cancer Institute (NCI) · Updated on 2026-06-01
144
Participants Needed
1
Research Sites
52 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are investigating the use of allogeneic hematopoietic stem cell transplantation (HSCT) to treat patients with mutations in the GATA2 gene or the clinical syndrome of MonoMAC. This condition involves immune deficiencies and can lead to serious infections and blood cancers like myelodysplastic syndrome and leukemia. The study aims to determine whether HSCT can restore normal blood cell production and reverse disease symptoms within one year after transplant. Participants receive stem cell transplants from donors who are closely matched by tissue type. Before the transplant, patients undergo conditioning with chemotherapy and/or radiation depending on donor match and risk factors. The transplant day is followed by post-transplant immunosuppression to prevent graft-versus-host disease. Different donor types and conditioning regimens are used based on matching and patient condition. During the study, participants undergo physical exams, blood tests, imaging, and other assessments before and after transplant. They stay in the hospital until stable and have frequent monitoring for at least six months post-transplant, with ongoing follow-up visits for up to five years. Researchers track engraftment success, immune recovery, complications, and survival outcomes to evaluate transplant safety and effectiveness.
CONDITIONS
Brief Title
Allogeneic Hematopoietic Stem Cell Transplant for GATA2 Mutations
Who Can Participate
Age: 6Years - 70Years
All Genders
Eligibility Criteria
You may qualify if you...
- Patient 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 GATA2 bone marrow immunodeficiency with loss of immune cells
- Availability of a 10/10, 9/10, or 8/10 HLA-matched related or unrelated donor, or haploidentical related donor
- May have myelodysplastic syndrome with less than 10% blasts in bone marrow
- Disease should be in remission or controlled to proceed to transplant
- Left ventricular ejection fraction greater than 40%
- Adult creatinine ≤ 2.0 mg/dl and creatinine clearance ≥ 30 ml/min; pediatric creatinine < 1.5 mg/dL and clearance > 30 ml/min/1.73m²
- Serum conjugated bilirubin < 2.5 mg/dl; liver enzymes ≤ 5 times upper limit
- Pulmonary function tests with FEV1 and DLCO > 30%, or no dyspnea/exercise intolerance if unable to cooperate
- Ability to understand and sign informed consent
- Agreement to use contraception for one year post-transplant
- Willingness to stay near hospital with caregiver support for 100 days post-transplant
You will not qualify if you...
- Receiving other investigational agents except virus-specific cytotoxic T-cells before transplant
- HIV-positive status
- History of allergic reactions to study drugs such as steroids, cyclophosphamide, or busulfan
- Chronic active hepatitis B with positive surface antigen without hepatology consultation
- Psychiatric disorder that compromises protocol compliance or informed consent
- Active infection not responding to treatment
- Active central nervous system malignancy
- Pregnant or lactating women
- Breastfeeding during study and one year post-transplant
- Active malignancy in other organs except virus-driven tumors controlled by immune recovery
- No available suitable HLA-matched or haploidentical donor
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Pre-transplant Conditioning
Duration - Approximately 1 week
Participants receive a pre-transplant conditioning regimen with chemotherapy and/or radiation to prepare for the stem cell transplant.
Daily visits during conditioning days
Allogeneic Hematopoietic Stem Cell Transplant (HSCT)
Duration - 1 day
Participants undergo allogeneic stem cell transplant to restore normal hematopoiesis and reverse disease symptoms.
1 transplant day (in-person)
Post-transplant Immunosuppression and Care
Duration - From day +3 to approximately day +180 post-transplant
Participants receive post-transplant immunosuppressive medications to prevent graft-versus-host disease and support recovery.
Multiple visits with immunosuppression administration and monitoring
Follow-up and Monitoring
Duration - Up to 5 years post-transplant
Participants are monitored for engraftment, immune recovery, safety, and long-term outcomes after transplant.
Regular visits at days 30, 100, 6 months, 1 year, 2 years, 3 years, and annually up to 5 years
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.
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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Published Research Related To This Trial
Sequencing of RNA in single cells reveals a distinct transcriptome signature of hematopoiesis in GATA2 deficiency.
Zhijie Wu, Shouguo Gao, Carrie Diamond...
https://pubmed.ncbi.nlm.nih.gov/32556286