Can a stem cell transplant fix a rare genetic immune disorder?

NCT ID NCT01861106

Recruiting now Disease control Sponsor: National Cancer Institute (NCI) Source: ClinicalTrials.gov ↗

First seen Jun 27, 2026 · Last updated Jul 21, 2026 · Updated 7 times

Summary

This study tests whether a stem cell transplant from a healthy donor can treat GATA2 deficiency, a rare genetic condition that weakens the immune system and raises the risk of leukemia. Participants aged 6 to 70 with GATA2 mutations will receive chemotherapy or radiation before the transplant. The goal is to see if the donor cells can restore normal blood and immune function within a year.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

Active substance: stem cell transplant
What this could lead to: If successful, this could provide a long-term treatment for GATA2 deficiency, potentially restoring normal blood and immune function.
What could go wrong: This is a phase 2 trial with only 144 participants. Risks include transplant rejection, severe infection, and graft-versus-host disease. Results may not apply to all patients.

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Conditions

The condition(s) this trial relates to.

GATA2 deficiency with susceptibility to MDS/AML immunodeficiency disease inborn error of immunity monocytopenia with susceptibility to infections myelodysplastic syndrome myelodysplastic syndrome with excess blasts

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

GATA2 IMMUNODEFICIENCY MDS

Contacts and locations

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Study contacts

Contact

Phone: •••-•••-•••• Email: •••••@•••••

Locations

National Institutes of Health Clinical Center
RECRUITING

Bethesda, Maryland, 20892, United States

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