Allogeneic Hematopoietic Stem Cell Transplant for GATA2 Mutations (NCT01861106)

🧪 Interventions in This Study

• Busulfan Test dose (DRUG)
• Fludarabine (Fludara, Berlex Laboratories) (DRUG)
• Busulfan (Busulfex) (DRUG)
• Cyclophosphamide (CTX, Cytoxan) (DRUG)
• Mycophenolate mofetil (MMF) (DRUG)
• Tacrolimus (DRUG)
• Equine Anti-Thymocyte Globulin (BIOLOGICAL)

Check every box below. If you can check all of them, you may meet the study's basic screening requirements (final eligibility is confirmed by the site team).

1. Recipient
2. Patient age of 6-70 years.
3. 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.
4. 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.
5. Availability of a 10/10 or 9/10 or 8/10 HLA-matched related or unrelated donor, or a haploidentical related donor.
6. Patients may have evidence of MDS with one or more peripheral blood cytopenias and greater than 5% blasts but must have less than 10% blasts in the bone marrow in the absence of filgrastim in order to proceed directly to transplant. The majority of patients with MDS will have less than 5% blasts.
7. Disease status: Patients are to be referred in remission for evaluation. Should a patient have progressive disease with \>10% blasts on screening/baseline bone marrow biopsy, the patient may receive standard treatment under the current study prior to proceeding with transplant. Once the patient has \<10% blasts, they may proceed to transplant. The patient may also be referred back to their primary hematologist or oncologist for treatment. If this course of action is not in the best interest of the patient according to the clinical judgment of the PI/LAI, then the patient may receive standard treatment for the malignant disease or hematological disorder under the current study. If under either of these settings, it becomes apparent that the participant will not be able to proceed to transplant, then he/she must come off study. Recipient-Subjects receiving a standard therapy will be told about the therapy, associated risks, benefits and alternatives of the proposed therapy, and availability of receiving the same treatment elsewhere, outside of a research protocol.
8. Left ventricular ejection fraction \> 40%, preferably by 2-D echocardiogram obtained within 90 days prior to initiation of conditioning therapy.
9. Creatinine: Adult patients: \<= 2.0 mg/dl and creatinine clearance \>= 30 ml/min; Pediatric patients (\<18 years old): creatinine \<1.5 mg/dL and a creatinine clearance, using the Schwartz Formula, \> 30 mL/min/1.73m\^2.
10. Serum conjugated bilirubin \< 2.5 mg/dl; serum ALT and AST \<= 5 times upper limit of normal.
11. Pulmonary function tests: FEV1 and DLCO \>30% Note: For children who are unable to cooperate for PFTs, the criterion is: No evidence of dyspnea at rest, no exercise intolerance, and no requirement for supplemental oxygen therapy
12. Ability of patient or Legally Authorized Representative (LAR) (if the patient is deemed by the treating physician to be cognitively impaired or questionably impaired in such a way that the ability of the patient to give informed consent is questionable) to understand and the willingness to sign a written informed consent document indicating that they are aware of the investigational nature of this study or written informed consent obtained from parent or legal guardian if subject is a minor.

🔍 Extracted verbatim from the official NIH eligibility criteria. Always confirm with the study coordinator.

📍 All Participating Trial Locations (1 Sites)

• National Institutes of Health Clinical Center — Bethesda, Maryland

📞 Contact the Study Coordinator

Phone: (240) 281-3922

Email: danielle.arnold@nih.gov

Coordinator details come directly from the registered NIH protocol. Confirm the study is still recruiting before traveling.

💰 Cost, Insurance & Patient Rights

• 100% Free Items: The investigational treatment and protocol-required procedures are supplied at zero cost by the sponsor.
• Routine Patient Care: Under federal law (ACA § 2709) and many state statutes, routine care costs are covered during participation.
• Voluntary Participation: You may withdraw at any time without affecting your standard medical care.
• 💵 Compensation indicated: Should a patient have progressive disease with \>10% blasts on screening/baseline bone marrow biopsy, the patient may receive standard treatment under the current study prior to proceeding with tra...

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Explore by condition: All GATA2 clinical trials

💡 How to Participate

1. Check the checklist above to see if you may qualify.
2. Contact the study coordinator using the phone/email above.
3. Ask about the visit schedule, what is covered at no cost, and any travel support.
4. Confirm with your own doctor before making a decision.