RecruitingNCT03610802

Send-In Sample Collection to Achieve Genetic and Immunologic Characterization of Primary Immunodeficiencies

Sponsor

National Institute of Allergy and Infectious Diseases (NIAID)

Enrollment

3,000 participants

Start Date

Jul 22, 2019

Study Type

OBSERVATIONAL

Conditions

Primary Immunodeficiency

Summary

Background: The immune system helps the body fight infections. Primary immunodeficiency disorders (PIDs) are diseases that make it easier for people to get sick. Many PIDs are inherited. This means parents can pass them on to their children. Knowing what causes a person s PID is important to decide what treatment to give them. Objective: To test samples from people with a PID or people related to someone with a PID to find out what causes PIDs. Eligibility: People ages 99 or younger who have a PID or have a relative with a PID Design: Participants will be screened with a medical history over the phone. They may need to give permission for researchers talk to their doctors about their health. Their relatives may be contacted to see if they want to join the study. Participants will give samples. These could be: Blood: Participants blood will be taken from a vein in an arm, or with a prick on the finger or heel for children. Saliva, urine, or stool: Participants will provide each sample in a special cup. Nose or cheek swab: Participants will rub the skin inside their nose or cheek using a cotton swab. Cord blood: If participants have a baby during the study, blood will be collected from the baby s umbilical cord after it is born. Samples from medical procedures: If, during the study, the participants have a medical procedure that collects samples, the samples may be used for the study.

Eligibility

Min Age: 1 DayMax Age: 99 Years

Plain Language Summary

Simplified for easier understanding

This study collects blood and other biological samples from people with Primary Immunodeficiency Diseases (PIDs) — a broad group of over 400 rare genetic disorders where parts of the immune system are missing or don't work properly — and their biological relatives. By analyzing these samples genetically and immunologically, researchers aim to better classify and understand these rare conditions. PIDs range from well-known life-threatening conditions like SCID to milder forms causing repeated unusual infections. As a 'send-in' study, patients anywhere can mail samples to the NIH for analysis, making it accessible to those who cannot travel. Healthy family members also provide valuable comparison data. People of any age with a confirmed or suspected PID, as well as their biological relatives, are eligible. No experimental treatment is involved. You may be eligible if you: - Are of any age (0–99 years) - Have a confirmed or suspected Primary Immunodeficiency Disease (PID), OR are a biological relative (parent, sibling, child, grandparent, aunt/uncle, or first cousin) of someone with a known or suspected PID - Are willing to allow genetic testing of your samples - Are willing to allow sample storage for future research You may NOT be eligible if you: - Have a secondary (acquired) cause of immunodeficiency such as HIV infection or long-term chemotherapy - Are an adult permanently lacking the capacity to make decisions and provide consent Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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