Understanding Primary Immunodeficiency Disorders
Investigating the Mechanistic Biology of Primary Immunodeficiency Disorders
National Institutes of Health Clinical Center (CC) · NCT03394053
This study looks at primary immunodeficiency disorders by comparing people with these conditions to their healthy family members and volunteers to learn more about their causes and how they respond to treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 2500 (estimated) |
| Ages | 1 Day to 90 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) (nih) |
| Locations | 2 sites (Washington D.C., District of Columbia and 1 other locations) |
| Trial ID | NCT03394053 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate primary immunodeficiency disorders (PIDs) by comparing data from individuals diagnosed with PIDs, their healthy biological relatives, and healthy volunteers. Participants will undergo medical history assessments, physical exams, and blood tests for genetic and immunologic research. The study will focus on various forms of PIDs, including severe combined immunodeficiency (SCID) and natural killer (NK) cell deficiency, to better understand their genetic causes and clinical implications. Participants will be followed over time to assess the natural history of these disorders and their responses to therapies.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 0-75 with a clinical diagnosis of a primary immunodeficiency disorder or their healthy biological relatives.
Not a fit: Patients with conditions unrelated to primary immunodeficiency disorders may not receive any benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of primary immunodeficiency disorders, potentially enhancing patient outcomes.
How similar studies have performed: Other studies have shown success in understanding genetic causes of immunodeficiencies, making this approach both relevant and promising.
Eligibility criteria
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA:
1. Subjects must meet one of the following 4 criteria:
1. Patients (age 0-90 years) with a clinical diagnosis of a form of PID (either known or unknown). PID is 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. 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.
2. Infants identified at birth with positive newborn screening for SCID and confirmed to have T-cell lymphocytopenia. These subjects must be willing to undergo genetic testing.
3. Biological relatives (age 0-90 years) of a subject who meets criterion 1a or 1b but who do not have a PID themselves. All relatives must be willing to undergo genetic testing. Women of childbearing potential, or who are pregnant or lactating, may be eligible. The volume of blood collected for research purposes will be reduced in consideration of their safety.
4. Healthy volunteers (age 18-75 years) who are not related to another study subject, who do not have a PID, whose weight is greater than 110 pounds, do not have a history of any heart, lung, or kidney disease, or bleeding disorders, do not have a history of viral hepatitis (B or C), and have a negative HIV screening test.
2. All subjects must be willing to allow their samples to be stored for future research.
EXCLUSION CRITERIA:
1. 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.
2. Any condition that, in the opinion of the investigator, contraindicates participation in this study.
Where this trial is running
Washington D.C., District of Columbia and 1 other locations
- Children's National Health System (CNHS) — Washington D.C., District of Columbia, United States (RECRUITING)
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (RECRUITING)
Study contacts
- Principal investigator: Luigi D Notarangelo, M.D. — National Institute of Allergy and Infectious Diseases (NIAID)
- Study coordinator: Luigi D Notarangelo, M.D.
- Email: luigi.notarangelo2@nih.gov
- Phone: (301) 761-7550
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Primary Immunodeficiency Disorders, SCID, Natural Killer cell deficiency, Combined Immunodeficiency, T-Cell Lymphocytopenia, Of Immune Pathways, Natural History