Recruiting

Observational Study

Sponsor:

National Institute of Allergy and Infectious Diseases (NIAID)

Code:

NCT01905826

Conditions

GATA2 Deficiency

Eligibility Criteria

Sex: All

Age: 2 - 70+

Healthy Volunteers: Accepted

Study Details

Brief summary:

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

GATA2 Deficiency

Study ID

NCT01905826

Start date

Aug 26, 2013

Status verified date

Sep 1, 2026

Primary completion date

Mar 31, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 2 - 70+

Healthy Volunteers: Accepted

  • 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.

Study Design

Enrollment

600 participants

Anticipated

Interventions and Outcome Measures

Arms

Patient Relatives

Blood relatives of enrolled patients.

Patients

Patients with known mutations in GATA2 or those with clinical and laboratory characteristics strongly consistent with GATA2 deficiency.

Primary outcome measure

  • Prospectively follow patients with GATA2 deficiency or phenotypic characteristics strongly consistent with GATA2 deficiency to characterize the full spectrum of clinical disease, better understand the reasons for phenotypic variability, better u... [ Time Frame: ongoing ]

Central Contacts and Locations

Central contacts

Audrey M Neale

(240) 506-4024audrey.neale@nih.gov

Steven M Holland, M.D.

(301) 402-7684sholland@mail.nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

More Information

Sponsor

National Institute of Allergy and Infectious Diseases (NIAID)

Last update posted

Sep 3, 2026

Last verified

Sep 1, 2026

Keywords

  • Myelodysplastic Syndromes
  • Herpesvirus
  • Disseminated nontuberculous Mycobacterial (NTM)
  • human papillomavirus (HPV)
  • Leukemia
  • Natural History

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Institute of Allergy and Infectious Diseases (NIAID) on 2026-09-03.