Alpha 1-Antitrypsin DeficiencyNCT06505603
PiMZ Longitudinal Cohort (PiMZ Logic)
An observational study of Alpha 1-Antitrypsin Deficiency and Emphysema or COPD, run by Columbia University at 5 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Alpha 1-Antitrypsin Deficiency, Emphysema or COPD
- How many people
- 80 participants
- Where
- 5 sitesUnited States
- Study dates
- 30 May 2025to Feb 2029
- How long will I take part?
- 3 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients with Alpha-1 Antitrypsin Deficiency genotype MZ across the United States.
Who may be able to join
- 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
Who cannot join
- 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
Show all 18Show fewer
- 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
Trial locations and contacts
5 sites in 1 country. Contact the study team or a site near you to ask about taking part.
5 sites in 1 country
United States5 sites, 5 recruiting
- Not yet recruiting
University of Alabama at Birmingham
Birmingham, Alabama, 35233
Dianne Freeman, BS, RRT, 205-996-2709, dsmurphy@uabmc.edu
Edwina Harris, MA, CRT, 2049345555, nharris@uabmc.edu
- Not yet recruiting
University of Chicago
Chicago, Illinois, 60637
Vanita Patel, 773-702-1012, vpatel4@bsd.uchicago.edu
Lyndon Fabi, 7737027153, pmv3496@bsd.uchicago.edu
- Not yet recruiting
National Jewish Health
Denver, Colorado, 80206
Robert Sandhaus, MD, PhD, FCCP, RSandhaus@alphanet.org
Robert Sandhaus, MD, PhD, FCCP
- Recruiting
University of California- Los Angeles
Los Angeles, California, 90095
Semi Yoon, 310-794-2156, semiyoon0113@g.ucla.edu
Roslynn McGill, 3108252616, rmcgill@mednet.ucla.edu
- Not yet recruiting
Columbia University Irving Medical Center
New York, New York, 10032
Sabrina Palumbo, BS, 212-305-3745, sp4461@cumc.columbia.edu
Monica Goldklang, MD
About this study
Official title: Alpha-1 Antitrypsin PiMZ Longitudinal Cohort (PiMZ Logic)
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.
Read the detailed description
Progression of lung disease in patients with Alpha-1 Anti-trypsin deficiency is variable and while some patients may have stable lung function over many years, some progress and deteriorate rapidly. Currently there are no predictors that would help identify patient at risk of rapid deterioration in the PiMZ patient population. The aim of this study is to identify markers and features in CT imaging that may allow identification of these patients early before deterioration. To achieve this, the study will follow a cohort of patients with confirmed Alpha-1 Anti-trypsin deficiency (MZ genotype) and obstructive lung disease and measure a number of biomarkers in blood and sputum and obtain high resolution CT scans at baseline and again three years later. If the study is able to determine markers that allow the identification of patients at risk early, the investigator may be able to study early interventions in later studies and possibly find ways to avoid serious complications. Patients will be followed longitudinally to assess deterioration of lung function.
Study procedures include: Review of medical history and medication history, blood draw, spriometry, induced sputum (at some sites), completion of questionnaires and CT Chest scan. All of the mentioned procedures above will be performed on enrollment and repeated at 18 months and 36 months, with the exception of monthly Alpha- net exacerbation questionnaires.
- Conditions
- Alpha 1-Antitrypsin Deficiency, Emphysema or COPD
- Keywords
- Alpha-1, Biomarker, PiMZ
- Medical subject headings
- alpha 1-Antitrypsin Deficiency, Emphysema, Pulmonary Disease, Chronic Obstructive
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Emphysema | FEV1/FVC <70% |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in lung density over three years
Change in lung density over three years determined by using the 15th percentile point (PERC-15) of Hounsfield units in inspiratory high resolution CT scans.
Measured: 3 years
Decline of PERC-15 (15th percentile) over three years
Rate of decline of PERC-15 over three years. PERC-15 provides the Hounsfield unit point below which 15% of all voxels are distributed. The lowest threshold is -1,000 HU. The lower the PERC-15 values are, the more CT-quantified emphysema is present.
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Jul 2024
- Study start30 May 2025
- Primary completionFeb 2029 (estimated)
- Study completionFeb 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Alpha 1-Antitrypsin DeficiencyStudies of the same condition, open and under way.
- More trials run by Columbia UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 80 participants (estimated)
- Target duration
- 3 Years
Sponsor and investigators
- Lead sponsor
- Columbia University
- Sponsor type
- University, hospital or other
- Collaborators
- Alpha-1 Foundation
- Responsible party
- Sponsor
- Investigators
- Monica Goldklang, MD, Principal investigator, Columbia University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06505603
- Sponsor's protocol ID
- AAAU9605
- Status last verified
- Jan 2026
- First submitted
- 11 Jul 2024
- Last updated
- 16 Jan 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: This study is part of a larger research study where one of the objectives is to create a AATD de-identified, public use repository of data. This repository will be query based, and any sub-projects that stem from this will need to abide by the appropriate Human Subjects Protection, GCP guidelines (i.e., IRB protocol, local IRB approval, DUA, Release of Information) and be reviewed by the research committee including the Alpha-1 Foundation prior to release of any de-identified data.
Study at a glance
From the registry record, last updated by the sponsor on 16 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Alpha-1 Antitrypsin PiMZ Longitudinal Cohort (PiMZ Logic)
- ClinicalTrials.gov ID
- NCT06505603
- Acronym / sponsor ID
- AAAU9605
- Conditions
- Alpha 1-Antitrypsin Deficiency, Emphysema or COPD
- Keywords
- Alpha-1, Biomarker, PiMZ
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 80 participants (estimated)
- Lead sponsor
- Columbia UniversityUniversity, hospital or other
- Collaborators
- Alpha-1 Foundation
- Study start
- 30 May 2025 (actual)
- Primary completion
- Feb 2029 (estimated)
- Study completion
- Feb 2029 (estimated)
- First posted
- 17 Jul 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Progression of lung disease in patients with Alpha-1 Anti-trypsin deficiency is variable and while some patients may have stable lung function over many years, some progress and deteriorate rapidly. Currently there are no predictors that would help identify patient at risk of rapid deterioration in the PiMZ patient population. The aim of this study is to identify markers and features in CT imaging that may allow identification of these patients early before deterioration. To achieve this, the study will follow a cohort of patients with confirmed Alpha-1 Anti-trypsin deficiency (MZ genotype) and obstructive lung disease and measure a number of biomarkers in blood and sputum and obtain high resolution CT scans at baseline and again three years later. If the study is able to determine markers that allow the identification of patients at risk early, the investigator may be able to study early interventions in later studies and possibly find ways to avoid serious complications. Patients will be followed longitudinally to assess deterioration of lung function.
Study procedures include: Review of medical history and medication history, blood draw, spriometry, induced sputum (at some sites), completion of questionnaires and CT Chest scan. All of the mentioned procedures above will be performed on enrollment and repeated at 18 months and 36 months, with the exception of monthly Alpha- net exacerbation questionnaires.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 3 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Emphysema | – | –FEV1/FVC <70% |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients with Alpha-1 Antitrypsin Deficiency genotype MZ across the United States.
Key inclusion criteria (7 listed)
- 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%
Key exclusion criteria (18 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Change in lung density over three years
Time frame: 3 years
Change in lung density over three years determined by using the 15th percentile point (PERC-15) of Hounsfield units in inspiratory high resolution CT scans.
Decline of PERC-15 (15th percentile) over three years
Time frame: 3 years
Rate of decline of PERC-15 over three years. PERC-15 provides the Hounsfield unit point below which 15% of all voxels are distributed. The lowest threshold is -1,000 HU. The lower the PERC-15 values are, the more CT-quantified emphysema is present.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Jan 2026.
- Individual participant dataSharing planned: Yes. This study is part of a larger research study where one of the objectives is to create a AATD de-identified, public use repository of data. This repository will be query based, and any sub-projects that stem from this will need to abide by the appropriate Human Subjects Protection, GCP guidelines (i.e., IRB protocol, local IRB approval, DUA, Release of Information) and be reviewed by the research committee including the Alpha-1 Foundation prior to release of any de-identified data.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Monica Goldklang, MD principal investigator
Columbia University
5 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Alpha 1-Antitrypsin Deficiency and Emphysema or COPD, run by Columbia University at 5 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 18 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 16 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Sabrina Palumbo, BS (2123053745, sp4461@cumc.columbia.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in lung density over three years (time frame: 3 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Jan 2026; AzTrials last refreshed its copy on 31 Oct 2026.