The Mechanistic Biology of Primary Immunodeficiency Disorders

Recruiting now

Conditions studied: Primary Immunodeficiency Disorders

In brief

Background: Primary immunodeficiency disorders, or PIDs, are diseases that weaken the immune system. This makes it easier for a person to get sick. Some PIDs are mild and may not be diagnosed until later in life. Other kinds are severe and can be identified shortly after birth. Researchers want to learn more about PIDs by comparing data from relatives and healthy volunteers to people with a PID. Objective: To learn more about PIDs, including their genetic causes. Eligibility: People ages 0-90 with a PID or their healthy biological relatives the same ages Healthy volunteers ages 18-75 Design: Participants will be screened with a medical history, physical exam, and HIV blood test. They may have a pregnancy test. Participants may repeat the screening tests. Blood taken at screening will be used for genetic tests and research tests. Participants will be told test results that affect their health. Some blood will be stored for future research. Adult participants with a PID may have a small piece of skin removed. The area will be numbed. A small tool will take a piece of skin about the size of a pencil eraser. Researchers may collect fluid or tissue samples from PID participants regular medical care. They will use them for research tests. Participants with a PID will have 3 follow-up visits over 10 years (for infants, 2 years). Visits will include a physical exam, medical history, and blood draw. Participants with a PID and their relatives will be called once a year for 10 years. They will talk about how they are feeling and if they have developed any new symptoms or illnesses.

Key facts

Study ID

NCT03394053

Run by

National Institute of Allergy and Infectious Diseases (NIAID)

People needed

2500

Starts

2018-05-30

Expected to finish

2040-12-31

Last updated by the study team

2026-08-07

Who can join

Age: 0 and older, up to 90. Sex: any. Healthy volunteers: accepted.

You may not qualify if…

• Subjects with secondary causes of immunodeficiency are excluded from this study. Secondary causes of immunodeficiency include HIV infection and immunodeficiency that is deemed to be secondary to chronic use of immunosuppressive medications or chemotherapeutic agents.
• Any condition that, in the opinion of the investigator, contraindicates participation in this study.

Where it is running

• Children's National Health System (CNHS) — Washington D.C., District of Columbia, United States (enrolling)
• National Institutes of Health Clinical Center — Bethesda, Maryland, United States (enrolling)

Full record on ClinicalTrials.gov

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