Improving the Diagnosis of Common Variable Immune Deficiency

NCT03335605 | Completed

• 1 other identifier: UCLA-IMMUNOLOGY-16-001950
• Study Type: observational
• Target: 24
• Locations: 1 country
• Sites: 1

Brief Summary

This is an observational, case-control study with a single blood draw among two cohorts, patients with antibody deficiency (e.g., CVID) and healthy controls. Samples will be analyzed by mass cytometry (CyTOF) to examine the major signaling pathways of all circulating innate and adaptive immune cell types, as well as whole exome sequencing. The goal is to improve our general understanding of the human immune response to infections and the diagnosis of CVID.

Conditions

CVI - Common Variable Immunodeficiency

Keywords

primary immunodeficiency

Outcome Measures

Primary Outcomes (1)

• Differences in Immune Cells in CVID and healthy controls

  Whole blood from subjects and from controls will be aliquotted into portions, and each portion will be stimulated with either cytokines, TLR agonists, anti-TCR or anti-BCR antibodies, PMA, or left unstimulated. Treated cells will be surface stained, fixed, permeabilized, and stained intracellularly for 12 signaling phospho-proteins, then analyzed by CyTOF, which enables measurement of over 50 parameters simultaneously across all circulating immune cell types (CD4 and CD8 T cells, B cells, NK cells, monocytes, macrophages, neutrophils, eosinophils, and DCs). All responses across all cells for all stimuli will be aggregated by principal components analysis to a single metric that will be compared between subjects with antibody deficiency and controls.

  2 years

Study Arms (2)

Antibody deficiency (CVID)

Subjects with antibody deficiency (CVID)

Healthy controls

Age and gender-matched control subjects

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with a diagnosis of CVID and Healthy controls

You may qualify if:

• Diagnosis of antibody deficiency (CVID)

Sponsors & Collaborators

• University of California, Los Angeles: lead
• Jeffrey Modell Foundation: collaborator

Study Sites (1)

UCLA

Los Angeles, California, 90095, United States

Location

Related Publications (1)

• Choi J, Fernandez R, Maecker HT, Butte MJ. Systems approach to uncover signaling networks in primary immunodeficiency diseases. J Allergy Clin Immunol. 2017 Sep;140(3):881-884.e8. doi: 10.1016/j.jaci.2017.03.025. Epub 2017 Apr 13.

  PMID: 28412396 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

\< 5 mL of whole blood

MeSH Terms

Conditions

Common Variable Immunodeficiency; Primary Immunodeficiency Diseases

Condition Hierarchy (Ancestors)

Immunologic Deficiency Syndromes; Immune System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Manish J Butte, MD PhD

  University of California, Los Angeles

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 27, 2017
• First Posted: November 8, 2017
• Study Start: May 1, 2019
• Primary Completion: December 31, 2021
• Study Completion: June 1, 2022
• Last Updated: April 20, 2026

Record last verified: 2021-03

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)