Alpha 1-Antitrypsin DeficiencyA1BCNCT05297812
Alpha-1 Antitrypsin Disease Cohort: Longitudinal Biomarker Study of Disease
An observational study of Alpha 1-Antitrypsin Deficiency and Genetic Disease, run by Columbia University at 9 sites in United States.
Trial summary
Alpha-1 Anti-trypsin Deficiency (AATD) is a genetic disease with lung and liver disease presentations. The purpose of this study 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… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Alpha 1-Antitrypsin Deficiency, Genetic Disease
- How many people
- 286 participants
- Where
- 9 sitesUnited States
- Study dates
- 23 Mar 2022to Jan 2027
- How long will I take part?
- 36 Months
- 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 ZZ across the United States.
Who may be able to join
- Males and females aged 18 years and older
- Patients with known Alpha-1 Anti-trypsin deficiency (PiZZ)
- Be an existing member of the Alpha-1 Foundation Clinical Cohort (Alpha-1 Foundation Research Registry)
- Willingness to perform study procedures of Chest CT, blood biomarker determination, questionnaire completion, and lung function testing.
Who cannot join
- AATD non-PiZZ status, including carriers
- Pregnancy at the time of the screening visit
- COPD exacerbation or other pulmonary infection within 6 weeks of baseline visit
- Previous lung or liver transplantation or currently on the transplant list
Trial locations and contacts
9 sites in 1 country.
9 sites in 1 country
United States9 sites
University of Alabama at Birmingham
Birmingham, Alabama, 35233
Boston University
Boston, Massachusetts, 02118
University of North Carolina
Chapel Hill, North Carolina, 27514
Medical University of South Carolina
Charleston, South Carolina, 29425
University of Chicago
Chicago, Illinois, 60637
National Jewish Health
Denver, Colorado, 80206
University of California - Los Angeles
Los Angeles, California, 90095
Columbia University
New York, New York, 10032
University of Utah
Salt Lake City, Utah, 84108
About this study
Official title: Alpha-1 Antitrypsin Disease Cohort: Longitudinal Biomarker Study of Disease - Alpha-1 Biomarker Research Consortium (A1BC)
Alpha-1 Anti-trypsin Deficiency (AATD) is a genetic disease with lung and liver disease presentations. The purpose of this study 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 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. 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 and 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, complete Pulmonary Function Test (PFT), 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, Genetic Disease
- Keywords
- Alpha-1, Biomarker, PiZZ
- Medical subject headings
- alpha 1-Antitrypsin Deficiency, Genetic Diseases, Inborn
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 |
|---|---|---|
| Moderate to Advanced Emphysema | Patients with moderate or advanced Emphysema as measured by baseline inspiratory PERC-15 below the study median | |
| Minimal Emphysema | Patients with minimal emphysema as measured by baseline inspiratory PERC-15 above the study median |
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 of Hounsfield units in inspiratory high resolution CT scans (PERC-15)
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 posted28 Mar 2022
- Study start23 Mar 2022
- Primary completionJan 2027 (estimated)
- Study completionJan 2027 (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
- 286 participants (actual)
- Target duration
- 36 Months
Sponsor and investigators
- Lead sponsor
- Columbia University
- Sponsor type
- University, hospital or other
- Collaborators
- Alpha-1 Foundation, National Heart, Lung, and Blood Institute (NHLBI)
- Responsible party
- Principal investigator, Jeanine D'Armiento, Columbia University
- Investigators
- Jeanine M D'Armiento, MD, PhD, Principal investigator, Columbia UniversityCharlie Strange, MD, Study chair, Medical University of South Carolina
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05297812
- Sponsor's protocol ID
- AAAS8713
- Other IDs
- 1UG3HL152323
- Acronym
- A1BC
- Status last verified
- Jan 2026
- First submitted
- 17 Mar 2022
- 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 Disease Cohort: Longitudinal Biomarker Study of Disease - Alpha-1 Biomarker Research Consortium (A1BC)
- ClinicalTrials.gov ID
- NCT05297812
- Acronym / sponsor ID
- A1BC / AAAS8713
- Conditions
- Alpha 1-Antitrypsin Deficiency, Genetic Disease
- Keywords
- Alpha-1, Biomarker, PiZZ
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 286 participants (actual)
- Lead sponsor
- Columbia UniversityUniversity, hospital or other
- Collaborators
- Alpha-1 Foundation, National Heart, Lung, and Blood Institute (NHLBI)
- Study start
- 23 Mar 2022 (actual)
- Primary completion
- Jan 2027 (estimated)
- Study completion
- Jan 2027 (estimated)
- First posted
- 28 Mar 2022 (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. The purpose of this study 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 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. 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 and 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, complete Pulmonary Function Test (PFT), 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
- 36 Months
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Moderate to Advanced Emphysema | – | –Patients with moderate or advanced Emphysema as measured by baseline inspiratory PERC-15 below the study median |
| Minimal Emphysema | – | –Patients with minimal emphysema as measured by baseline inspiratory PERC-15 above the study median |
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 ZZ across the United States.
Key inclusion criteria (4 listed)
- Males and females aged 18 years and older
- Patients with known Alpha-1 Anti-trypsin deficiency (PiZZ)
- Be an existing member of the Alpha-1 Foundation Clinical Cohort (Alpha-1 Foundation Research Registry)
- Willingness to perform study procedures of Chest CT, blood biomarker determination, questionnaire completion, and lung function testing.
Key exclusion criteria (4 listed)
- AATD non-PiZZ status, including carriers
- Pregnancy at the time of the screening visit
- COPD exacerbation or other pulmonary infection within 6 weeks of baseline visit
- Previous lung or liver transplantation or currently on the transplant list
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 of Hounsfield units in inspiratory high resolution CT scans (PERC-15)
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.
Related trials for Alpha 1-Antitrypsin Deficiency
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Genetic Variation in IgG in Alpha 1 Antitrypsin Deficiency
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Enrolling by invitationObservational study
AATD-Liver Scan Study
Alpha-1 Antitrypsin Deficiency, AATD
RecruitingPhase 3
A Non-inferiority Pharmacokinetic and Safety/Tolerability Study of Two Different Doses of Weekly SC Alpha1-PI 15% Compared With Corresponding Standard IV Alpha1-PI in Participants With Alpha1-Antitrypsin Deficiency (AATD)
Alpha 1 Antitrypsin Deficiency
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. This study is not recruiting at the moment.
Jeanine M D'Armiento, MD, PhD principal investigator
Columbia University
Charlie Strange, MD study chair
Medical University of South Carolina
9 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 Genetic Disease, run by Columbia University at 9 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 4 inclusion and 4 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: under way, not looking for participants, 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 9 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?
The record lists no contact. The official record names the sponsor, who can be asked directly. 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). 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.