RecruitingNCT06505603

PiMZ Longitudinal Cohort (PiMZ Logic)

Alpha-1 Antitrypsin PiMZ Longitudinal Cohort (PiMZ Logic)


Sponsor

Columbia University

Enrollment

80 participants

Start Date

May 30, 2025

Study Type

OBSERVATIONAL

Conditions

Summary

Alpha-1 Anti-trypsin Deficiency (AATD) is a genetic disease with lung and liver disease presentations. Presentations are variable in the heterozygous population, the most predominant genotype being PiMZ. The purpose of this study in PiMZ heterozygous patients is to examine the density of the lung as measured by chest computed tomography (CT) and determine if existing emphysema predicts changes in the rate of subsequent emphysema or changes in CT, serum or plasma biomarkers of interest. The overarching goal is to develop biomarkers pertinent to the PiMZ patient that can be used in interventional trials since lung function changes do not typically inform disease progression in AATD.


Eligibility

Min Age: 18 Years

Plain Language Summary

Simplified for easier understanding

This study follows people with a specific genetic variant of alpha-1 antitrypsin deficiency (AATD) called PiMZ — a condition where the liver doesn't make enough of a protective lung protein, which can lead to lung disease (COPD). The goal is to track how the disease progresses over time and to build a better understanding of this specific variant. **You may be eligible if...** - You are 18 or older with confirmed PiMZ alpha-1 antitrypsin deficiency - You have reduced lung function (FEV1 below 80% predicted and an abnormal FEV1/FVC ratio) - You are already a member of the Alpha-1 Foundation Clinical Cohort or registry - You are willing to share your data with the registry **You may NOT be eligible if...** - You have a different AATD variant (not PiMZ) - You have active cancer other than early-stage skin or cervical cancer - You have had a COPD flare or lung infection in the last 6 weeks - You are pregnant - You are unable to lie still for a CT scan or perform lung function tests - You are allergic to albuterol Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Locations(5)

University of Alabama at Birmingham

Birmingham, Alabama, United States

University of California- Los Angeles

Los Angeles, California, United States

National Jewish Health

Denver, Colorado, United States

University of Chicago

Chicago, Illinois, United States

Columbia University Irving Medical Center

New York, New York, United States

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NCT06505603


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