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GATA2 缺乏症及相关疾病的自然史研究

2026年10月28日 更新者：National Institute of Allergy and Infectious Diseases (NIAID)

GATA2 缺乏症及相关疾病的自然史

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.

研究概览

地位

招聘中

条件

详细说明

Mutations in GATA2, a critical hematopoietic transcription factor, underlie a complex congenital disorder characterized by immunodeficiency, bone marrow failure, and lymphatic/vascular dysfunction. Patients with GATA2 deficiency may suffer from a striking variety of diseases including severe and recurrent infections, myelodysplasia/leukemia, pulmonary alveolar proteinosis, lymphedema, sensorineural hearing loss, and possibly susceptibility to other malignancies, autoimmune disorders, thrombotic events, and miscarriage. Mutations in GATA2 appear to be fully penetrant, but expressivity is remarkably variable, even among related individuals. Disease may also manifest at nearly any age ranging from early childhood to late adulthood, the reasons for which remain poorly understood.

While considerable progress has been made towards better understanding this complex congenital disorder, many important questions remain unanswered: What is the full spectrum of clinical disease and the associated pathophysiology? What accounts for the remarkable variability in age of onset and clinical phenotype? What are the optimal strategies for disease diagnosis and management? This natural history protocol is designed to further characterize the clinical phenotype of GATA2 deficiency, better understand the reasons for phenotypic variability, better understand disease progression over time, standardize the diagnostic evaluation, and facilitate the screening of at risk relatives. Up to 500 males and females greater than or equal to 2 years old with proven mutations in GATA2 or clinical and laboratory characteristics strongly consistent with GATA2 deficiency will initially undergo a series of baseline laboratory tests and diagnostic procedures at the NIH. Follow-up laboratory testing will be conducted at yearly visits; additional follow-up diagnostic procedures will be conducted based on clinical need.

研究类型

观察性的

注册 (估计的)

600

联系人和位置

本节提供了进行研究的人员的详细联系信息，以及有关进行该研究的地点的信息。

学习联系方式

研究联系人备份

学习地点

  • 美国
    • Maryland
      • Bethesda、Maryland、美国、20892
        • 招聘中
        • National Institutes of Health Clinical Center

参与标准

研究人员寻找符合特定描述的人，称为资格标准。这些标准的一些例子是一个人的一般健康状况或先前的治疗。

资格标准

适合学习的年龄

2年 至 100年 (孩子、成人、年长者)

接受健康志愿者

是的

有资格学习的性别

全部

取样方法

非概率样本

研究人群

Patients >=2 years old with known mutations in GATA2 or those with clinical and laboratory characteristics strongly consistent with GATA2 deficiency will be enrolled along with any of their blood relatives.

描述

  • 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.

学习计划

本节提供研究计划的详细信息，包括研究的设计方式和研究的衡量标准。

研究是如何设计的？

设计细节

  • 观测模型：COHORT
  • 时间观点：PROSPECTIVE

队列和干预

团体/队列
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.

研究衡量的是什么？

主要结果指标

结果测量
措施说明
大体时间
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...
大体时间：ongoing

Collecting information on GATA2 deficiency.
ongoing

合作者和调查者

在这里您可以找到参与这项研究的人员和组织。

赞助

National Institute of Allergy and Infectious Diseases (NIAID)

合作者

Baylor College of Medicine
UCSF Diabetes Center and Division of Infectious Diseases
Department of Molecular and Cell Biology
New York Genome Center

调查人员

  • 首席研究员：Steven M Holland, M.D.、National Institute of Allergy and Infectious Diseases (NIAID)

出版物和有用的链接

负责输入研究信息的人员自愿提供这些出版物。这些可能与研究有关。

一般刊物

有用的网址

研究记录日期

这些日期跟踪向 ClinicalTrials.gov 提交研究记录和摘要结果的进度。研究记录和报告的结果由国家医学图书馆 (NLM) 审查，以确保它们在发布到公共网站之前符合特定的质量控制标准。

研究主要日期

学习开始 (实际的)

2013年8月26日

初级完成 (估计的)

2028年3月31日

研究注册日期

首次提交

2013年7月18日

首先提交符合 QC 标准的

2013年7月18日

首次发布 (估计的)

2013年7月23日

研究记录更新

最后更新发布 (实际的)

2026年10月29日

上次提交的符合 QC 标准的更新

2026年10月28日

最后验证

2026年9月1日

更多信息

与本研究相关的术语

关键字

其他相关的 MeSH 术语

其他研究编号

  • 130157
  • 13-I-0157

计划个人参与者数据 (IPD)

计划共享个人参与者数据 (IPD)？

是的

IPD 计划说明

Relevant individual participant data collected during the trial, after deidentification.

IPD 共享时间框架

Available on reasonable request after completion of the trial. No end date.

IPD 共享访问标准

It will be shared with researchers wishing to access the date for research project. To gain access, data requestors will need to sign Data Access/Use Agreement and provide supporting documentation.

IPD 共享支持信息类型

  • 树液

药物和器械信息、研究文件

研究美国 FDA 监管的药品

不

研究美国 FDA 监管的设备产品

不

此信息直接从 clinicaltrials.gov 网站检索，没有任何更改。如果您有任何更改、删除或更新研究详细信息的请求，请联系 register@clinicaltrials.gov. clinicaltrials.gov 上实施更改，我们的网站上也会自动更新.

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