The Mechanistic Biology of Primary Immunodeficiency Disorders
- Conditions
- Primary Immunodeficiency Disorders
- Registration Number
- NCT03394053
- Brief Summary
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 75 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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- Detailed Description
This is a natural history study designed to investigate forms of primary immunodeficiency disorders (PIDs), and to better define both new and previously described forms of PID, including severe combined immunodeficiency (SCID), combined immunodeficiency, natural killer (NK) cell deficiency, and other disorders. Patients with clinical and/or laboratory evidence of PID will be recruited at Children s National Health System (CNHS) and the National Institute of Allergy and Infectious Diseases (NIAID). Infants identified at birth with a positive newborn screening for SCID and confirmed to have T-cell lymphocytopenia will also be recruited at CNHS. Subjects with a known or unknown PID and infants with T-cell lymphocytopenia will provide one or more blood samples during the course of the study to enable immunologic and genetic investigations of immune pathways contributing to PIDs. These subjects will also be followed clinically to longitudinally assess the natural history of novel and known PIDs. Subjects will be followed over time with regard to their immunologic phenotype, clinical disease (including incidence of infections, autoimmune phenomena, allergic disease, or malignancies), and response to both preventative and definitive therapies. Biological relatives who do not have PID and healthy adult volunteers will also be eligible to serve as controls for this study.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 2500
Not provided
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Identification of genetic variants that are associated with PID. 10-15 years comparing these subjects to the large cohort of data in the Exome Aggregation Consortium (ExAC) Browser (Beta), which is available through http://exact.broadinstitute.org.
Identification of unique clinical phenotypes associated with known genetic causes of PID. 10- 15 years comparing these subjects to the large cohort of data in the Exome Aggregation Consortium (ExAC) Browser (Beta), which is available through http://exact.broadinstitute.org.
- Secondary Outcome Measures
Name Time Method Overall survival 10-15 years comparing these subjects to the large cohort of data in the Exome Aggregation Consortium (ExAC) Browser (Beta), which is available through http://exact.broadinstitute.org.
Incidence of autoimmune disease 10-15 years comparing these subjects to the large cohort of data in the Exome Aggregation Consortium (ExAC) Browser (Beta), which is available through http://exact.broadinstitute.org.
Identification of phenotypic, molecular, and functional abnormalities associated with known or novel forms of PID. 10-15 years comparing these subjects to the large cohort of data in the Exome Aggregation Consortium (ExAC) Browser (Beta), which is available through http://exact.broadinstitute.org.
Incidence of malignancies. 10-15 years comparing these subjects to the large cohort of data in the Exome Aggregation Consortium (ExAC) Browser (Beta), which is available through http://exact.broadinstitute.org.
Incidence of infections. 10-15 years comparing these subjects to the large cohort of data in the Exome Aggregation Consortium (ExAC) Browser (Beta), which is available through http://exact.broadinstitute.org.
Incidence of allergic disorders 10-15 years comparing these subjects to the large cohort of data in the Exome Aggregation Consortium (ExAC) Browser (Beta), which is available through http://exact.broadinstitute.org.
Impact of both preventative and definitive treatments on event-free survival (as defined by survival in absence of invasive or chronic infection, autoimmunity, or malignancies). 10-15 years comparing these subjects to the large cohort of data in the Exome Aggregation Consortium (ExAC) Browser (Beta), which is available through http://exact.broadinstitute.org.
Trial Locations
- Locations (2)
Children's National Health System (CNHS)
🇺🇸Washington, District of Columbia, United States
National Institutes of Health Clinical Center
🇺🇸Bethesda, Maryland, United States