The Mechanistic Biology of Primary Immunodeficiency Disorders
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|ClinicalTrials.gov Identifier: NCT03394053|
Recruitment Status : Recruiting
First Posted : January 9, 2018
Last Update Posted : December 14, 2018
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.
To learn more about PIDs, including their genetic causes.
People ages 0 75 with a PID or their healthy biological relatives the same ages
Healthy volunteers ages 18 75
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.
|Condition or disease|
|Primary Immunodeficiency Disorders|
|Study Type :||Observational|
|Estimated Enrollment :||1100 participants|
|Official Title:||The Mechanistic Biology of Primary Immunodeficiency Disorders|
|Actual Study Start Date :||May 30, 2018|
|Estimated Primary Completion Date :||December 31, 2037|
|Estimated Study Completion Date :||December 31, 2039|
People ages 0 75 with a PID
Healthy biological relatives the same ages
Healthy volunteers ages 18 75
- Identification of genetic variants that are associated with PID [ Time Frame: end of accrual period of 8 years ]
- Identification of unique clinical phenotypes associated with known genetic causes of PID [ Time Frame: end of accrual period of 8 years ]
- Identification of phenotypic, molecular, and functional abnormalities associated with known or novel forms of PID. [ Time Frame: the end of 15 year period from start of protocol ]
- Incidence of infection and autoimmune disease; incidence of allergic disorders, incidence of malignancies and overall survival [ Time Frame: the end 15 year period from start of protocol ]
- Impact of both preventive and definitive treatments on event-free survival (as defined by survival in absence of invasive or chronic infection, autoimmunity, or malignancies). [ Time Frame: the end of 15 year perios from start of protocol ]
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03394053
|Contact: Luigi D Notarangelo, M.D.||(301) firstname.lastname@example.org|
|United States, District of Columbia|
|Division of Allergy & Immunology Children's Hospital (CNHS)||Recruiting|
|Washington, District of Columbia, United States, 20010|
|Contact: Michael Keller, M.D. 202-476-5843 email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Luigi D Notarangelo, M.D.||National Institute of Allergy and Infectious Diseases (NIAID)|