RECRUITING

Natural History Study of GATA2 Deficiency and Related Disorders

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

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.

Official Title

The Natural History of GATA2 Deficiency and Related Disorders

Quick Facts

Study Start:2013-08-26
Study Completion:N/A
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT01905826

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:2 Years to 100 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:Yes
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Have a mutation in GATA2 proven by genetic testing (previous test results will be accepted) OR meet both of the following criteria:
  2. * 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:
  3. * Disseminated NTM or invasive fungal infection.
  4. * Severe or recurrent HPV or herpesvirus infection.
  5. * MDS, AML, or CMML.
  6. * Biopsy-proven PAP.
  7. * 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:
  8. * Absolute monocyte count \<240 cells/microL.
  9. * Absolute B lymphocyte count \<60 cells/microL.
  10. * Absolute NK lymphocyte count \<126 cells/microL.
  11. * Agree to undergo genetic testing.
  12. * Allow their samples to be stored for future research.
  1. Pregnancy or breastfeeding
  2. Severe psychiatric disorders
  3. Active substance abuse
  4. Unstable medical conditions
  5. Inability to comply with study requirements

Contacts and Locations

Study Contact

Audrey M Neale
CONTACT
(240) 506-4024
audrey.neale@nih.gov
Steven M Holland, M.D.
CONTACT
(301) 402-7684
sholland@mail.nih.gov

Principal Investigator

Steven M Holland, M.D.
PRINCIPAL_INVESTIGATOR
National Institute of Allergy and Infectious Diseases (NIAID)

Study Locations (Sites)

National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
United States

Collaborators and Investigators

Sponsor: National Institute of Allergy and Infectious Diseases (NIAID)

  • Steven M Holland, M.D., PRINCIPAL_INVESTIGATOR, National Institute of Allergy and Infectious Diseases (NIAID)

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2013-08-26
Study Completion DateN/A

Study Record Updates

Study Start Date2013-08-26
Study Completion DateN/A

Terms related to this study

Keywords Provided by Researchers

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

Additional Relevant MeSH Terms

  • GATA2 Deficiency