Status:
RECRUITING
Natural History Study of GATA2 Deficiency and Related Disorders
Lead Sponsor:
National Institute of Allergy and Infectious Diseases (NIAID)
Collaborating Sponsors:
Baylor College of Medicine
UCSF Diabetes Center and Division of Infectious Diseases
Conditions:
GATA2 Deficiency
Eligibility:
All Genders
2-100 years
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. Ot...
Detailed Description
Mutations in GATA2, a critical hematopoietic transcription factor, underlie a complex congenital disorder characterized by immunodeficiency, bone marrow failure, and lymphatic/vascular dysfunction. Pa...
Eligibility Criteria
Inclusion
- 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.
Exclusion
Key Trial Info
Start Date :
August 26 2013
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
Estimated Enrollment :
600 Patients enrolled
Trial Details
Trial ID
NCT01905826
Start Date
August 26 2013
Last Update
December 31 2025
Active Locations (1)
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1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892