The Mechanistic Biology of Primary Immunodeficiency Disorders

ConditionPrimary Immunodeficiency Disorders

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

Age1-90

SponsorNational Institute of Allergy and Infectious Diseases (NIAID)

About this trial

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.

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Eligibility criteria

This trial accepts healthy volunteers

Qualifiers

Patients (age 0-90 years) with a clinical diagnosis of a form of PID (either known or unknown). PID may be defined by laboratory and/or clinical findings on two or more occasions that are consistent with a defect in innate or adaptive immunity. Specific PIDs are defined by the International Union of Immunological Societies guidelines. These subjects must also be willing to undergo genetic testing and to allow their biospecimens to be modified into iPS cells. Women of childbearing potential, or who are pregnant or lactating, may be eligible, however the volume of blood collected for research purposes will be reduced, and no skin biopsies will be performed for research purposes in consideration of their safety.

Biological relatives (age 0-90 years) of a subject who meet criterion 1a, but who do not have a PID themselves. Relatives may be mother, father, siblings, children, grandparents, aunts, uncles, and first cousins to a patient. There is no limit due to sex, race, or disability. Women of childbearing potential, or who are pregnant or lactating, may be eligible, however the volume of blood collected for research purposes will be reduced in consideration of their safety. Relatives must also be willing to undergo genetic testing.

Weight greater than 110 pounds.

Not have any heart, lung, or kidney disease, or bleeding disorders.

Disqualifiers

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.

Trial population

Potential subjects with confirmed or suspected PID and their biological relatives will be referred to the study from physicians at the NIH. In addition, patients who have a clinical diagnosis of PID may also be referred from physicians at other institutions. Healthy volunteers may be recruited from the NIH Clinical Research Volunteer Program

Trial design

Design model

Family-based

Time perspective

Prospective

Treatments tested in this trial

Not listed

Trial groups

1,190 Participants

are grouped into 3 trial groups

Group A: Affected Patient

Group B: Normal Volunteer

Group C: Relative of Patient