Understanding GATA2 Deficiency and Its Health Impacts
The Natural History of GATA2 Deficiency and Related Disorders
This study is trying to learn more about GATA2 deficiency, a genetic condition that affects the immune system, by collecting samples from people aged 2 and older who have this mutation to help improve diagnosis and treatment options.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 600 (estimated) |
| Ages | 2 Years to 100 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT01905826 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate GATA2 deficiency, a genetic disorder that affects the immune system and can lead to various health issues, including infections and cancer. Researchers will collect blood and urine samples from participants aged 2 and older who have a GATA2 mutation or related health conditions to better understand the spectrum of clinical manifestations and the reasons for variability in disease expression. The study seeks to improve diagnostic tests and treatment strategies for individuals affected by this condition.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 2 years and older with a confirmed GATA2 mutation or specific health conditions associated with the disorder.
Not a fit: Patients without a GATA2 mutation and without related health conditions may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnostic and treatment options for patients with GATA2 deficiency.
How similar studies have performed: While there has been progress in understanding GATA2 deficiency, this study aims to address unanswered questions, making it a novel approach in this area.
Eligibility criteria
Show full inclusion / exclusion criteria
* 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.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Steven M Holland, M.D. — National Institute of Allergy and Infectious Diseases (NIAID)
- Study coordinator: Audrey M Neale
- Email: audrey.neale@nih.gov
- Phone: (240) 506-4024
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.