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Search / Trial NCT00001467

Genetic Analysis of Immune Disorders

Launched by NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES (NIAID) · Nov 3, 1999

Trial Information

Current as of March 20, 2025

Recruiting

Keywords

Primary Immunodeficiency Disorders Immunologic Disorders Mutation Genetic Analysis Natural History

ClinConnect Summary

This clinical trial is focused on understanding certain immune disorders, like DOK 8, STAT1, GATA2, and others, which can affect how our bodies fight infections and respond to diseases. The study aims to find out which genes are linked to these disorders, what health problems they may cause, and how we can predict who might develop these issues or pass them on to their children. Patients who have or may have these immune disorders, along with their family members, can take part in the study.

Eligible participants of all ages and backgrounds will provide a small blood sample for testing, and in some cases, additional samples may be collected through a quick mouth brush or a tiny skin biopsy. If researchers find a specific gene that explains the immune disorder, the results will be shared with the patient’s doctor or genetic counselor, who can discuss what this means for the family. By participating, individuals may gain valuable insights into their health and help researchers learn more about the immune system and its disorders, which could improve treatments and family planning decisions in the future.

Gender

ALL

Eligibility criteria

  • * INCLUSION / EXCLUSION CRITERIA:
  • Probands and their blood relatives, of any age, and ethnicity, who are affected, or suspected of being affected with genetic conditions and immune dysregulations under study are eligible to enroll as patients and family member enrollees.

Trial Officials

Gulbu Uzel, M.D.

Principal Investigator

National Institute of Allergy and Infectious Diseases (NIAID)

About National Institute Of Allergy And Infectious Diseases (Niaid)

The National Institute of Allergy and Infectious Diseases (NIAID) is a key component of the National Institutes of Health (NIH) dedicated to advancing the understanding, prevention, and treatment of infectious and immune-mediated diseases. Through rigorous clinical trials, NIAID aims to foster innovative research that enhances public health and addresses global health challenges, including emerging infectious diseases and allergies. The institute collaborates with various partners, including academic institutions, industry, and international organizations, to translate scientific discoveries into effective therapies and vaccines. NIAID's commitment to high-quality clinical research is integral to improving health outcomes and informing policy decisions in the realm of infectious diseases and immunology.

Locations

Bethesda, Maryland, United States

Bethesda, Maryland, United States

People applied

MO

RN

2 patients applied

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported

Discussion 0

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