Genetic Variation in IgG in Alpha 1 Antitrypsin Deficiency

NCT07135427 | Recruiting Phase 4 FDA Drug

• 2 other identifiers: IRB300008528(000547878)Research award
• Study Type: interventional
• Target: 30
• Locations: 1 country
• Sites: 1

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.

Conditions

Alpha 1-Antitrypsin; COPD; Antibody Deficiency

Outcome Measures

Primary Outcomes (1)

• Antibody response

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

  4 weeks from baseline measurement

Secondary Outcomes (1)

• Lymphocyte profile

  Baseline, 4 weeks post-vaccination

Other Outcomes (1)

• Gene variants

  Baseline

Study Arms (1)

SERPINA1 'Z' heterozygotes

EXPERIMENTAL

Participants who are heterozygous for the SERPINA1 'Z' allele with either 0 or 2+ exacerbations in the previous year, and have not received pneumococcal vaccination within 5 years will be given PCV20.

Biological: 20-valent pneumococcal conjugate vaccine

Interventions

20-valent pneumococcal conjugate vaccine BIOLOGICAL

Administration of PCV20

SERPINA1 'Z' heterozygotes

Eligibility Criteria

• Age: 19 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• Received a pneumococcal conjugate vaccine within the past 5 years
• Known allergy, severe adverse reaction, or other sensitivity to pneumococcal conjugate vaccines

Sponsors & Collaborators

• University of Alabama at Birmingham: lead
• Alpha-1 Foundation: collaborator

Study Sites (1)

University of Alabama at Birmingham

Birmingham, Alabama, 35294, United States

RECRUITING

MeSH Terms

Conditions

alpha 1-Antitrypsin Deficiency; Pulmonary Disease, Chronic Obstructive

Condition Hierarchy (Ancestors)

Liver Diseases; Digestive System Diseases; Lung Diseases; Respiratory Tract Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Subcutaneous Emphysema; Emphysema; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Lung Diseases, Obstructive; Chronic Disease; Disease Attributes

Central Study Contacts

David LaFon, MD

CONTACT

2059343411; dlafon@uabmc.edu

Study Design

• Study Type: interventional
• Phase: phase 4
• Allocation: NA
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor

Study Record Dates

• First Submitted: August 14, 2025
• First Posted: August 22, 2025
• Study Start: September 3, 2025
• Primary Completion (Estimated): March 1, 2027
• Study Completion (Estimated): June 1, 2027
• Last Updated: November 10, 2025

Record last verified: 2025-08

Locations

US (1)