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Understanding Common Variable Immunodeficiency and Related Immune Disorders

This study aims to better understand Common Variable Immunodeficiency (CVID) and related inborn errors of immunity (IEI). These conditions cause your immune system to not work correctly, leading to frequent infections and other health problems like gut inflammation, lung and liver disease, and autoimmune conditions. By studying people with CVID and similar immune disorders, researchers hope to improve how these conditions are diagnosed, treated, and how complications are prevented. You may be able to join if you are between 2 and 120 years old and have a confirmed diagnosis of CVID or a related B-cell immunodeficiency, such as selective IgA deficiency or agammaglobulinemia. The study will track the disease's progress and organ damage over time to find ways to improve care.

Study design
This is an observational study planning to include up to 500 participants. It aims to track the natural progression of CVID and related immune disorders.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
The study will evaluate the pattern and pace of the disease process at 1 year and ongoing, and organ dysfunction/damage and immune abnormalities will be evaluated on an ongoing basis.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT00001244

Immune Regulation in Patients With Common Variable Immunodeficiency and Related Inborn Errors of Immunity (IEI)

Recruiting
Not specifiedAges 2+Observational
National Institute of Allergy and Infectious Diseases (NIAID)
~500 participants
Updated 2026-08-28 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Establish pattern/pace of disease process
Measured over At 1 year and ongoing
+2 more outcomes measured

Conditions

XLA
CVID
Yao Syndrome
Blau Syndrome

Explore related trials

Blau SyndromeCommon Variable ImmunodeficiencyHumoral immunodeficiencyInherited Immunodeficiency DiseasesX-Linked AgammaglobulinemiaYao syndrome

Where it's being run

1 sites across 1 states
Maryland1

Study leadership

  • Warren Strober, M.D. · PRINCIPAL_INVESTIGATOR · National Institute of Allergy and Infectious Diseases (NIAID)

Who to contact

Kimberly L Montgomery-Recht, R.N.
[email protected]
(240) 422-7966
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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

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

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).

What this trial measures

  • Establish pattern/pace of disease processAt 1 year and ongoing

    To establish the pattern and pace of change of disease (frequency, distribution, type and extent of infections, inflammatory lesions and abnormalities of immune function).

  • Evaluation of organ dysfunction/damage resulting from immune abnormalityOngoing

    To establish the extent of organ involvement (infection and/or inflammation) and organ damage or dysfunction resulting from the abnormality of immune function.

  • Characterization of immune abnormalitiesOngoing

    To characterize the physiologic, biochemical or genetic basis of theabnormality of immunity.