Actively Recruiting
Natural History Study of GATA2 Deficiency and Related Disorders
Led by National Institute of Allergy and Infectious Diseases (NIAID) · Updated on 2026-04-30
600
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
N
National Institute of Allergy and Infectious Diseases (NIAID)
Lead Sponsor
B
Baylor College of Medicine
Collaborating Sponsor
AI-Summary
What this Trial Is About
Background: \- GATA2 deficiency is a genetic disorder that can cause problems with a person s immune system and other body systems. Some people who have this disorder develop few problems from it. Others can have a wide range of health problems, from skin problems, to hearing loss, to cancer. These problems can happen at any age. Researchers want to study GATA2 deficiency to better understand what types of health problems it can cause, and why it causes problems in some people but not others, and at different ages. Objectives: \- To improve understanding of GATA2 deficiency so there can be better diagnostic tests and treatments in the future. Eligibility: \- People 2 years of age or older who have a GATA2 gene mutation or certain health conditions that are commonly seen in people with this mutation and their blood relatives. Design: * Participants will be screened with a physical exam and medical history. Blood and urine samples will be collected to see whether participants have the GATA2 genetic mutation. Several other tests may be recommended, but participants can decline to take them. * Participants will be eligible to receive standard care for GATA2 deficiency through this protocol. They may be eligible for other clinical trials at the National Institutes of Health as well. * Participants will have regular study visits once a year to evaluate their GATA2 deficiency. Participants will take part in the study for at least 3 years and up to 15 years. At these follow-up visits, participants will fill out a questionnaire and take a physical exam and blood tests. Other tests may be performed as needed.
CONDITIONS
Official Title
Natural History Study of GATA2 Deficiency and Related Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Males and females aged 2 years or older
- Have a confirmed GATA2 gene mutation by genetic testing or meet clinical and laboratory criteria consistent with GATA2 deficiency
- Clinical criteria include history of disseminated NTM or invasive fungal infection, severe or recurrent HPV or herpesvirus infection, MDS, AML, CMML, or biopsy-proven pulmonary alveolar proteinosis
- Laboratory criteria include low monocyte count (<240 cells/microL), low B lymphocyte count (<60 cells/microL), or low NK lymphocyte count (<126 cells/microL)
- Agree to undergo genetic testing
- Allow their samples to be stored for future research
- Blood relatives aged 2 years or older of patients on this study; relatives who test positive for GATA2 may become study patients
You will not qualify if you...
- Individuals with any condition or taking any medication that the investigator believes contraindicates study participation
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
A
Audrey M Neale
CONTACT
S
Steven M Holland, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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