Genetic Variation in IgG in Alpha 1 Antitrypsin Deficiency

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

Status

Recruiting

Phases

Phase 4

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT07135427

Acronym

IgG in AATD

Enrollment

Registered

2025-08-22

Start date

2025-09-03

Completion date

2027-06-30

Last updated

2025-11-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Alpha 1-Antitrypsin, Antibody Deficiency, COPD

Brief summary

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.

Interventions

BIOLOGICAL20-valent pneumococcal conjugate vaccine

Administration of PCV20

Study design

Allocation

Intervention model

SINGLE_GROUP

Primary purpose

BASIC_SCIENCE

Masking

NONE

Eligibility

Sex/Gender

ALL

Age

19 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
Antibody response	4 weeks from baseline measurement	Pneumococcal antibody levels/function, total IgG levels, IgG subclass levels; magnitude of change from baseline

Secondary

Measure	Time frame	Description
Lymphocyte profile	Baseline, 4 weeks post-vaccination	B and T cell lymphocyte subsets

Other

Measure	Time frame	Description
Gene variants	Baseline	Variants in SERPINA1, IGHG genes

Countries

United States

Contacts

Primary ContactDavid LaFon, MD

dlafon@uabmc.edu2059343411

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026