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Genetic Variation in IgG in Alpha 1 Antitrypsin Deficiency

RecruitingPhase 4

Genetic Variation in IgG as a Mechanism for Immune Deficiency and Exacerbations in AATD

Who can join

Ages 19 and older · All sexes

Full eligibility criteria
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

About the study

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.

What is being tested

Sponsor: University of Alabama at Birmingham · Participants: 30 · Started: Sep 3, 2025

Contact the study team

Official record on ClinicalTrials.gov — NCT07135427

Locations in the U.S.

AlabamaUniversity of Alabama at Birmingham, Birmingham

Conditions

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.