Recruiting

Immunopathogenesis Study in Common Variable Immunodeficiency and Related Inborn Errors of Immunity

Study Aim

This observational study aims to characterize immune abnormalities in individuals with Common Variable Immunodeficiency and related Inborn Errors of Immunity, establish the pattern and pace of disease progression, and evaluate organ dysfunction or damage resulting from these immune abnormalities.

What is being collected

Data Collection

Collected from today forward - Prospective

Who is being recruted

Blood Protein Disorders+5

+ Hematologic Diseases

+ Hemic and Lymphatic Diseases

From 2 to 120 Years

+13 Eligibility Criteria

See all eligibility criteria

How is the trial designed

Cohort

Tracking disease incidence in order to identify risk factors and understand disease progression over time.

Observational

Study Start: January 1990

See protocol details

Summary

Principal SponsorNational Institute of Allergy and Infectious Diseases (NIAID)

Study ContactKimberly L Montgomery-Recht, R.N.More contacts

Last updated: July 23, 2026

Sourced from a government-validated database.Claim as a partner

Study start date: January 15, 1990

Actual date on which the first participant was enrolled.

The purpose of this protocol is to carry out laboratory studies concerning the immunopathogenesis of Common Variable Immunodeficiency (CVI) and related inborn errors of immunity (IEI). Additionally, we aim to document and track the progression of known complications of these immune abnormalities. Complications associated with CVI include recurrent respiratory, granulomas, pulmonary insufficiency, gastrointestinal bacterial infections, enteropathy, nodular regenerative hyperplasia, lymphoid malignancy, and various autoimmune manifestations. Patients with CVI and related IEI will be enrolled into this natural history study. Protocol procedures will include baseline measurements of and changes in lab studies. First- or second-degree genetically related family members (limited to mother, father, siblings, grandparents, children, aunts, uncles, and first cousins of an affected patient) may also be screened for clinical, in vitro, and genetic correlates of immune abnormalities. Changes in the patients' clinical state will be measured to determine the precursors of disease complications. This may lead to developments in improving preventive measures and novel treatment options for this population.

NCT00001244

Principal SponsorNational Institute of Allergy and Infectious Diseases (NIAID)

Study ContactKimberly L Montgomery-Recht, R.N.More contacts

Last updated: July 23, 2026

Sourced from a government-validated database.Claim as a partner

Protocol

This section provides details of the study plan, including how the study is designed and what the study is measuring.

Design Details

500 patients to be enrolled

Total number of participants that the clinical trial aims to recruit.

Cohort

These studies follow a group of individuals with common characteristics (such as a condition or birth year) over a specific period to study health outcomes or exposures.

Eligibility

Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.

Conditions

Criteria

Any sex

Biological sex of participants that are eligible to enroll.

From 2 to 120 Years

Range of ages for which participants are eligible to join.

Healthy volunteers not allowed

If individuals who are healthy and do not have the condition being studied can participate.

Conditions

Pathology

Blood Protein DisordersHematologic DiseasesHemic and Lymphatic DiseasesImmunologic Deficiency SyndromesImmune System DiseasesLymphatic DiseasesLymphoproliferative DisordersAgammaglobulinemia

Criteria

9 inclusion criteria required to participate

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 with repeated infections and suspected of having an inborn error of immunity

Patients must be referred by their primary medical care provider

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)

Show More Criteria

4 exclusion criteria prevent from participating

Inability of an adult participant to provide informed consent for themselves (decisionally impaired adult)

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

Presence of other medical illnesses that would preclude individuals from undergoing routine diagnostic testing or testing for immunologic features of immunodeficiency

Study Plan

Find out more about all the medication administered in this study, their detailed description and what they involve.

Treatment Groups

Study Objectives

One single intervention group is designated in this study

This study does not include a placebo group

Treatment Groups

Study Objectives

Primary Objectives

Secondary Objectives

Study Centers

These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.

This study has 1 location

Recruiting

National Institutes of Health Clinical Center

Bethesda, United StatesOpen National Institutes of Health Clinical Center in Google Maps

Recruiting

One Study Center