NCT06505603 · Columbia University
PiMZ Longitudinal Cohort (PiMZ Logic)
What this study is about
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.
View original scientific description
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.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
Inclusion criteria
- Males and females aged 18 years and older
- Understand the study procedures, risks, benefits, purpose
- Able and willing to comply with the study procedures
- Have PiMZ alpha-1 antitrypsin deficiency
- Post bronchodilator FEV1 \< 80% predicted AND post bronchodilator FEV1/FVC \< 70%
- Be an existing member of the Alpha-1 Foundation Clinical Cohort (also known as the Alpha-1 Foundation Research Registry)
- Agree to have the data collected in this study be shared with the Alpha-1 Foundation Research Registry
Exclusion criteria
- AATD non-PiMZ status, including carriers
- Current lung, hematologic, or solid organ malignancy other than skin or cervical Stage 1 cancers within the past 3 years
- COPD exacerbation or other pulmonary infection within 6 weeks of baseline visit
- Pregnancy at the time of the screening visit
- Inability to lie still in a supine position for 15 minutes during CT acquisition
- Inability to perform quality-controlled lung function testing
- Allergy to albuterol
- Currently receiving intravenous or subcutaneous immunoglobulin for any disease state
- Past or present major surgery on the lungs including pneumonectomy or lobectomy. Wedge resections, past segmentectomy, and pleurodesis surgeries are allowed.
- Previous lung or liver transplantation or currently on the transplant list
- Decompensated cirrhosis
- Current presence of endobronchial coils or valves in the lung
- Clinically significant bronchiectasis as defined by the investigator. In general, this would exclude patients with chronic infection of the lungs requiring treatment within the past 6 months including non-tuberculous mycobacterial disease, chronic fungal disease, allergic bronchopulmonary aspergillosis, or known colonization of bronchiectasis with pseudomonas or stenotrophomonas species.
- Participation in the active treatment arm of a therapeutic clinical trial at baseline visit unless using one of the Alpha-1 augmentation therapies in alternative doses.
- Patient with Automatic Implantable Cardioverter Defibrillator (AICD) and permanent pacemakers (PPM)
- Patient receiving biologic immunomodulators that will affect the assessment of the serum biomarkers (as determined by the site PI)
- Patient with pleural catheters
- Any condition that in the opinion of the investigator might adversely influence the study outcome
Where
- Birmingham, Alabama
- Los Angeles, California
- Denver, Colorado
- Chicago, Illinois
- New York, New York
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Jan 16, 2026 · Source of record for eligibility and locations