Scientists track rare genetic disorder to unlock its secrets

NCT ID NCT01905826

First seen Jun 27, 2026 · Last updated Jul 01, 2026 · Updated 2 times

Summary

This study follows 600 people with GATA2 deficiency, a genetic disorder affecting the immune system and other body systems. Researchers aim to understand the full range of health problems it causes and why it affects people differently. Participants will have yearly check-ups for up to 15 years to track their health.

What this could mean

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

What this could lead to

If successful, this study could lead to better diagnostic tests and treatments for GATA2 deficiency.

What could go wrong

This is an observational study, not testing a new treatment. It may not directly improve health outcomes for participants.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

GATA2 Deficiency GATA2 deficiency with susceptibility to MDS/AML herpes simplex infectious disease leukemia Myelodysplastic Syndromes

As listed by the trial registrant

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

Contacts and locations

Study contacts

  • Contact

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

  • Contact

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

Locations

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States