Scientists track rare genetic disorder to unlock its secrets
NCT ID NCT01905826
First seen Jun 27, 2026 · Last updated Sep 17, 2026 · Updated 18 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.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 600 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Aug 2013
- Lead sponsor
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A government research agency
The lead sponsor is the US National Institutes of Health.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Patients \>=2 years old with known mutations in GATA2 or those with clinical and laboratory characteristics strongly consistent with GATA2 deficiency will be enrolled along with any of their blood relatives.
- Ages
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2 to 100 years
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
* INCLUSION CRITERIA: Males and females greater than or equal to 2 years old must meet the following criteria to be eligible for participation in this study: * Have a mutation in GATA2 proven by genetic testing (previous test results will be accepted) OR meet both of the following criteria: * Clinical characteristics strongly consistent with GATA2 deficiency per the following criteria and at the discretion of the principal investigator (PI). Individuals without a GATA2 mutation must have a past or present history of 1 or more of the following to be considered for study enrollment: * Disseminated NTM or invasive fungal infection. * Severe or recurrent HPV or herpesvirus infection. * MDS, AML, or CMML. * Biopsy-proven PAP. * Laboratory characteristics strongly consistent with GATA2 deficiency per the following criteria. Individuals without a GATA2 mutation must have 1 or more of the following to be considered for study enrollment: * Absolute monocyte count \<240 cells/microL. * Absolute B lymphocyte count \<60 cells/microL. * Absolute NK lymphocyte count \<126 cells/microL. * Agree to undergo genetic testing. * Allow their samples to be stored for future research. RELATIVE INCLUSION CRITERIA: Blood relatives, male or female, greater than or equal to 2 years old, of any patient on this study. If a relative is positive for GATA2 then they could become a patient on the study. SUBJECT EXCLUSION CRITERIA: Individuals with any condition or who are taking any medications that, in the opinion of the investigator, contraindicates participation in the study will be excluded.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States
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