Genetic Variation in IgG in Alpha 1 Antitrypsin Deficiency

Phase 4RecruitingNCT07135427

University of Alabama at Birmingham30 enrolled

Overview

The goal of this study is to learn whether patients who have a genetic mutation in the genes that cause alpha 1 antitrypsin deficiency also have genetic variation in nearby genes that can increase risk for reduced immune function and respiratory infections. To investigate this hypothesis, we will compare immune responses to the 20-valent pneumococcal conjugate vaccine (PCV20, Pfizer) between participants who have one abnormal copy of the SERPINA1 gene and either no COPD exacerbations, vs those with 2 or more COPD exacerbations in the past year.

Study Type

INTERVENTIONAL

Allocation

Purpose

BASIC_SCIENCE

Masking

NONE

Enrollment

Conditions

Alpha 1-Antitrypsin COPD Antibody Deficiency

Interventions

Eligibility

Sex: ALLMin age: 19 Years

Medical Language ↔ Plain English

Inclusion Criteria: * Adults who are heterozygous for a SERPINA1 Z allele * Have either had no COPD exacerbations or 2 or more exacerbations in the previous year * Has not received a pneumococcal conjugate vaccine within the past 5 years, or has only received the pneumococcal polysaccharide vaccine in the past Exclusion Criteria: * Received a pneumococcal conjugate vaccine within the past 5 years * Known allergy, severe adverse reaction, or other sensitivity to pneumococcal conjugate vaccines

Outcomes

Primary Outcomes

Antibody response

Pneumococcal antibody levels/function, total IgG levels, IgG subclass levels; magnitude of change from baseline

Time frame: 4 weeks from baseline measurement

Secondary Outcomes

Lymphocyte profile

B and T cell lymphocyte subsets

Time frame: Baseline, 4 weeks post-vaccination