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NCT Number: NCT07135427

Genetic Variation in IgG in Alpha 1 Antitrypsin Deficiency

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.

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Key information

Conditions

Alpha 1-Antitrypsin Antibody Deficiency COPD Chronic Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Digestive System Diseases Disease Attributes Emphysema Genetic Diseases, Inborn Liver Diseases Lung Diseases Lung Diseases, Obstructive Pathologic Processes Pathological Conditions, Signs and Symptoms Pulmonary Disease, Chronic Obstructive Respiratory Tract Diseases Subcutaneous Emphysema alpha 1-Antitrypsin Deficiency

Age range

19 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 4

Primary location

University of Alabama at Birmingham

Birmingham, Alabama, 35294, United States

Location status: Recruiting

Location contact

David C LaFon, MD

PRINCIPAL_INVESTIGATOR

LaFon

CONTACT

[email protected]

2059343411

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

20-valent pneumococcal conjugate vaccine

Biological

Administration of PCV20

Primary outcomes

  1. Antibody response

    Time frame: 4 weeks from baseline measurement

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

Secondary outcomes

  1. Lymphocyte profile

    Time frame: Baseline, 4 weeks post-vaccination

    B and T cell lymphocyte subsets

Other outcomes

  1. Gene variants

    Time frame: Baseline

    Variants in SERPINA1, IGHG genes

Study contacts

Contact information is provided by the study sponsor or research team.

David LaFon, MD

CONTACT

[email protected]

2059343411

Sponsors and collaborators

Lead sponsor

University of Alabama at Birmingham

Other

Collaborators

  • Alpha-1 Foundation

Registry information

Official study title

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

Acronym: IgG in AATD

Important dates

Study start
2025
Primary completion
2027
Study completion
2027
First posted
Aug 22, 2025
Registry last updated
Nov 10, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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