NCT01905826

Natural History Study of GATA2 Deficiency and Related Disorders

Recruiting now Last updated 13 April 2026

What this trial tests

trial in GATA2 Deficiency in 600 participants. Currently enrolling.

Timeline

26 August 2013

Primary endpoint
31 March 2028

Quick facts

Lead sponsor	National Institute of Allergy and Infectious Diseases (NIAID)
Status	Recruiting now
Study type	OBSERVATIONAL
Enrollment	600
Start date	26 August 2013
Primary completion	31 March 2028
Sites	1 location across United States

Conditions studied

• GATA2 Deficiency — all drugs for GATA2 Deficiency →

Sponsor

National Institute of Allergy and Infectious Diseases (NIAID)

Who can join

Adults 2 to 100, any sex, with GATA2 Deficiency. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

8 peer-reviewed publications reference this trial (live from Europe PMC):

1. ASXL1 and STAG2 are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome.
   West RR, Calvo KR, Embree LJ, Wang W, et al · · 2022 · cited 41× · PMID 34529785 · DOI 10.1182/bloodadvances.2021005065
2. Constructing and deconstructing GATA2-regulated cell fate programs to establish developmental trajectories.
   Johnson KD, Conn DJ, Shishkova E, Katsumura KR, et al · · 2020 · cited 38× · PMID 32736380 · DOI 10.1084/jem.20191526
3. MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations.
   McReynolds LJ, Yang Y, Yuen Wong H, Tang J, et al · · 2019 · cited 38× · PMID 30578959 · DOI 10.1016/j.leukres.2018.11.013
4. A unified metric of human immune health.
   Sparks R, Rachmaninoff N, Lau WW, Hirsch DC, et al · · 2024 · cited 37× · PMID 38961223 · DOI 10.1038/s41591-024-03092-6
5. Sequencing of RNA in single cells reveals a distinct transcriptome signature of hematopoiesis in GATA2 deficiency.
   Wu Z, Gao S, Diamond C, Kajigaya S, et al · · 2020 · cited 33× · PMID 32556286 · DOI 10.1182/bloodadvances.2019001352
6. A Panoply of Rheumatological Manifestations in Patients with GATA2 Deficiency.
   Amarnani AA, Poladian KR, Marciano BE, Daub JR, et al · · 2020 · cited 13× · PMID 32433473 · DOI 10.1038/s41598-020-64852-1
7. A novel GATA2 distal enhancer mutation results in MonoMAC syndrome in 2 second cousins.
   West RR, Bauer TR, Tuschong LM, Embree LJ, et al · · 2023 · cited 11× · PMID 37595058 · DOI 10.1182/bloodadvances.2023010458
8. Venetoclax/decitabine for a pediatric patient with chronic myelomonocytic leukemia.
   Molina JC, Asare JM, Tuschong L, West RR, et al · · 2021 · cited 7× · PMID 33369023 · DOI 10.1002/pbc.28865