Understanding immune system issues in patients with Common Variable Immunodeficiency
Studies of Immune Regulation in Patients With Common Variable Immunodeficiency and Related Inborn Errors of Immunity (IEI)
This study is trying to understand the causes and effects of Common Variable Immunodeficiency and related immune issues by tracking the health of patients with these conditions over time.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 500 (estimated) |
| Ages | 2 Years to 120 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Drugs / interventions | chemotherapy |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT00001244 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate the causes and progression of Common Variable Immunodeficiency (CVID) and related inborn errors of immunity (IEI). It involves enrolling patients diagnosed with CVID or related disorders, who will undergo various tests including blood draws, physical exams, and imaging studies to track their health over time. The study also aims to document complications associated with these immune disorders, which may include recurrent infections and autoimmune conditions. By collecting and analyzing patient data, the study hopes to improve diagnosis, treatment, and prevention strategies for these conditions.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 2 years and older with a verified diagnosis of Common Variable Immunodeficiency or related inborn errors of immunity.
Not a fit: Patients without a diagnosis of CVID or related immune disorders, or those under 2 years of age, may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better diagnostic and treatment options for patients with CVID and related immune disorders.
How similar studies have performed: Other studies have explored immune deficiencies, but this specific approach to understanding CVID and related IEIs is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: * Must have a verifiable diagnosis of common variable immune deficiency as defined by a decrease both in IgG and at least one other Ig isotype to below two standard deviations of normal control levels OR B-cell immunodeficiencies related to CVI (defined as selective IgA deficiency, selective IgG isotype deficiency, agammaglobulinemia, and hypogammaglobulinemia associated with Epstein-Barr virus infection), or hypogammaglobulinemia associated with other related inborn errors of immunity. This includes patients with a defined diagnosis of Blau or Yao Syndrome. * Must be 2 years old or greater. * Patients with repeated infections and suspected of having an inborn error of immunity. * Patients must be referred by their primary medical care provider. * On investigator s discretion, unaffected family members (mother, father, siblings, children, grandparents, aunts, uncles, and first cousins) may be asked for the provision of blood or buccal specimens for research purposes. * Patients who are lactating, may be eligible and will only undergo tests and procedures, and/or receive medications for which data exists that proves that they are minimal risk to the child. * Pregnant women will not be newly enrolled onto this protocol, however existing patients who become pregnant while on study will remain on study, as literature about pregnancy in CVI patients is sparse and outside providers have minimal knowledge about managing CVI during pregnancy. Pregnant women will only undergo tests and procedures, and/or receive medications for which data exists that proves that they are minimal risk to the fetus. Pregnant unaffected relatives will not be enrolled in this study). * All patients must be willing to have research samples stored for future studies and/or other research purposes. * NIH staff and family members of study team members may be enrolled in this study as this population may meet study criteria. Neither participation nor refusal to participate as a subject in the research will have an effect, either beneficial or adverse, on the participant s employment or position at the NIH. Every effort will be made to protect participant information, but such information may be available in medical records and may be available to authorized users outside of the study team in both an identifiable and unidentifiable manner. The NIH investigator will provide and request that the NIH staff member review the Frequently Asked Questions (FAQs) for Staff Who are Considering Participating in NIH Research and the Leavy Policy for NIH Employees Participating in NIH Medical Research Studies (NIH Policy Manual 2300-630-3). EXCLUSION CRITERIA: * Presence of other medical illnesses that would preclude individuals from undergoing routine diagnostic testing or testing for immunologic features of immunodeficiency. * Presence of a condition or treatment, such as HIV, cytotoxic chemotherapy or malignancy, that in the investigator s opinion could interfere with evaluation of the condition under study. * Pregnancy at the time of enrollment. * Inability of an adult participant to provide informed consent for themselves (decisionally impaired adult).
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Warren Strober, M.D. — National Institute of Allergy and Infectious Diseases (NIAID)
- Study coordinator: Kimberly L Montgomery-Recht, R.N.
- Email: kim.montgomery-recht@nih.gov
- Phone: (240) 422-7966
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.