PiMZ Longitudinal Cohort (PiMZ Logic)

NCT ID: NCT06505603

Last Updated: 2026-01-16

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

80 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-05-30

Study Completion Date

2029-02-28

Brief Summary

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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

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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

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Alpha 1-Antitrypsin Deficiency Emphysema or COPD

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Emphysema

FEV1/FVC \<70%

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

1. Males and females aged 18 years and older
2. Understand the study procedures, risks, benefits, purpose
3. Able and willing to comply with the study procedures
4. Have PiMZ alpha-1 antitrypsin deficiency
5. Post bronchodilator FEV1 \< 80% predicted AND post bronchodilator FEV1/FVC \< 70%
6. Be an existing member of the Alpha-1 Foundation Clinical Cohort (also known as the Alpha-1 Foundation Research Registry)
7. Agree to have the data collected in this study be shared with the Alpha-1 Foundation Research Registry

Exclusion Criteria

1. AATD non-PiMZ status, including carriers
2. Current lung, hematologic, or solid organ malignancy other than skin or cervical Stage 1 cancers within the past 3 years
3. COPD exacerbation or other pulmonary infection within 6 weeks of baseline visit
4. Pregnancy at the time of the screening visit
5. Inability to lie still in a supine position for 15 minutes during CT acquisition
6. Inability to perform quality-controlled lung function testing
7. Allergy to albuterol
8. Currently receiving intravenous or subcutaneous immunoglobulin for any disease state
9. Past or present major surgery on the lungs including pneumonectomy or lobectomy. Wedge resections, past segmentectomy, and pleurodesis surgeries are allowed.
10. Previous lung or liver transplantation or currently on the transplant list
11. Decompensated cirrhosis
12. Current presence of endobronchial coils or valves in the lung
13. 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.
14. 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.
15. Patient with Automatic Implantable Cardioverter Defibrillator (AICD) and permanent pacemakers (PPM)
16. Patient receiving biologic immunomodulators that will affect the assessment of the serum biomarkers (as determined by the site PI)
17. Patient with pleural catheters
18. Any condition that in the opinion of the investigator might adversely influence the study outcome
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Alpha-1 Foundation

OTHER

Sponsor Role collaborator

Columbia University

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Monica Goldklang, MD

Role: PRINCIPAL_INVESTIGATOR

Columbia University

Locations

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University of Alabama at Birmingham

Birmingham, Alabama, United States

Site Status NOT_YET_RECRUITING

University of California- Los Angeles

Los Angeles, California, United States

Site Status RECRUITING

National Jewish Health

Denver, Colorado, United States

Site Status NOT_YET_RECRUITING

University of Chicago

Chicago, Illinois, United States

Site Status NOT_YET_RECRUITING

Columbia University Irving Medical Center

New York, New York, United States

Site Status NOT_YET_RECRUITING

Countries

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United States

Central Contacts

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Sabrina Palumbo, BS

Role: CONTACT

2123053745

Facility Contacts

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Dianne Freeman, BS, RRT

Role: primary

205-996-2709

Edwina Harris, MA, CRT

Role: backup

2049345555

Semi Yoon

Role: primary

310-794-2156

Roslynn McGill

Role: backup

3108252616

Robert Sandhaus, MD, PhD, FCCP

Role: primary

Vanita Patel

Role: primary

773-702-1012

Lyndon Fabi

Role: backup

7737027153

Sabrina Palumbo, BS

Role: primary

212-305-3745

Other Identifiers

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AAAU9605

Identifier Type: -

Identifier Source: org_study_id

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