Natural History Study of GATA2 Deficiency and Related Disorders
This is not medical advice. AI-assisted translation — inaccuracies may occur. Always verify the original and consult your oncologist before taking any steps.
About the trial
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.
Original English text from ClinicalTrials.gov
Who can (and can't) join
✓ Qualifies
- •Osoby w wieku od 2 lat, które mają potwierdzoną mutację w genie GATA2 lub pewne choroby często występujące przy tej mutacji u nich lub członków rodziny.
- •Osoby, które mogą mieć objawy podobne do tych przy niedoborze GATA2, nawet bez potwierdzonej mutacji (np. nawracające infekcje, choroby szpiku kostnego, problemy z płucami).
- •Osoby z pewnymi nieprawidłowościami w wynikach badań krwi, np. niskim poziomem określonych komórek odpornościowych.
- •Osoby zgadzające się na dalsze badania genetyczne.
- •Osoby, które pozwalają na przechowywanie swoich próbek do przyszłych badań.
- •Członkowie rodziny osób już uczestniczących w badaniu (jeśli mają mutację GATA2, mogą stać się pacjentami badania).
✗ Disqualifies
- •Osoby z innymi schorzeniami lub przyjmujące leki, które według lekarza nie pozwalają na udział w badaniu.
Simplified criteria — AI translation
Trial details
- Minimum age
- 2 Years
- Maximum age
- 100 Years
- Last updated (source)
- July 8, 2026
- Sex
- No restrictions
Locations (1)
National Institutes of Health Clinical Center
Bethesda, United States
Trial contact
Audrey M Neale
Steven M Holland, M.D.
Contact information from ClinicalTrials.gov. Contact in English.
Share this trial
Data from ClinicalTrials.gov. AI-assisted translation, last sync: 7/3/2026.
You can help another person
We fund the Radar, this site, and the development of our Grosz dla Życia fundraising platform from donations and our own resources. Every contribution, even a small one, really helps.