NCT05297812

Brief 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, 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.

Trial Health

75
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
286

participants targeted

Target at P75+ for all trials

Timeline
8mo left

Started Mar 2022

Longer than P75 for all trials

Geographic Reach
1 country

9 active sites

Status
active not recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress86%
Mar 2022Jan 2027

First Submitted

Initial submission to the registry

March 17, 2022

Completed
6 days until next milestone

Study Start

First participant enrolled

March 23, 2022

Completed
5 days until next milestone

First Posted

Study publicly available on registry

March 28, 2022

Completed
4.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2027

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2027

Last Updated

January 16, 2026

Status Verified

January 1, 2026

Enrollment Period

4.8 years

First QC Date

March 17, 2022

Last Update Submit

January 14, 2026

Conditions

Keywords

Alpha-1BiomarkerPiZZ

Outcome Measures

Primary Outcomes (1)

  • 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)

    3 years

Study Arms (2)

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

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients with Alpha-1 Antitrypsin Deficiency genotype ZZ across the United States.

You may qualify if:

  • 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.

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (9)

University of Alabama at Birmingham

Birmingham, Alabama, 35233, United States

Location

University of California - Los Angeles

Los Angeles, California, 90095, United States

Location

National Jewish Health

Denver, Colorado, 80206, United States

Location

University of Chicago

Chicago, Illinois, 60637, United States

Location

Boston University

Boston, Massachusetts, 02118, United States

Location

Columbia University

New York, New York, 10032, United States

Location

University of North Carolina

Chapel Hill, North Carolina, 27514, United States

Location

Medical University of South Carolina

Charleston, South Carolina, 29425, United States

Location

University of Utah

Salt Lake City, Utah, 84108, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples will be collected for analysis in the ongoing clinical trial as well as for banking to for a bio-repository for future AATD studies. Participants will have the option to agree/not agree to partake in the optional bio-repository.

MeSH Terms

Conditions

alpha 1-Antitrypsin DeficiencyGenetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Liver DiseasesDigestive System DiseasesLung DiseasesRespiratory Tract DiseasesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSubcutaneous EmphysemaEmphysemaPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Officials

  • Jeanine M D'Armiento, MD, PhD

    Columbia University

    PRINCIPAL INVESTIGATOR
  • Charlie Strange, MD

    Medical University of South Carolina

    STUDY CHAIR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Target Duration
36 Months
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Associate Professor of Medicine (in Anesthesiology)

Study Record Dates

First Submitted

March 17, 2022

First Posted

March 28, 2022

Study Start

March 23, 2022

Primary Completion (Estimated)

January 1, 2027

Study Completion (Estimated)

January 1, 2027

Last Updated

January 16, 2026

Record last verified: 2026-01

Data Sharing

IPD Sharing
Will share

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.

Shared Documents
STUDY PROTOCOL
Time Frame
After first 3 years of data collection and preliminary analysis
Access Criteria
De-identified data will be available via i2b2 with proper protocol and IRB regulatory documentation

Locations