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Alpha-1 Antitrypsin Disease Cohort: Longitudinal Biomarker Study of Disease (A1BC)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT05297812
Recruitment Status : Recruiting
First Posted : March 28, 2022
Last Update Posted : July 6, 2022
Sponsor:
Collaborators:
National Heart, Lung, and Blood Institute (NHLBI)
Alpha-1 Foundation
Information provided by (Responsible Party):
Jeanine D'Armiento, Columbia University

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.

Condition or disease
Alpha 1-Antitrypsin Deficiency Genetic Disease

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.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 270 participants
Observational Model: Case-Control
Time Perspective: Prospective
Target Follow-Up Duration: 18 Months
Official Title: Alpha-1 Antitrypsin Disease Cohort: Longitudinal Biomarker Study of Disease - Alpha-1 Biomarker Research Consortium (A1BC)
Actual Study Start Date : March 23, 2022
Estimated Primary Completion Date : February 2026
Estimated Study Completion Date : February 2026


Group/Cohort
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



Primary Outcome Measures :
  1. 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)


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.


Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with Alpha-1 Antitrypsin Deficiency genotype ZZ across the United States.
Criteria

Inclusion Criteria:

  1. Males and females aged 18 years and older
  2. Patients with known Alpha-1 Anti-trypsin deficiency (PiZZ)
  3. Be an existing member of the Alpha-1 Foundation Clinical Cohort (Alpha-1 Foundation Research Registry)
  4. Willingness to perform study procedures of Chest CT, blood biomarker determination, sputum collection, questionnaire completion, and lung function testing.

Exclusion Criteria:

  1. AATD non-PiZZ status, including carriers
  2. Pregnancy at the time of the screening visit

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05297812


Contacts
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Contact: Alexis Fisher 212-305-3745 acf2163@cumc.columbia.edu

Locations
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United States, Alabama
University of Alabama at Birmingham Recruiting
Birmingham, Alabama, United States, 35233
Contact: Dianne Freeman, BS, RRT    205-996-2709    dsmurphy@uabmc.edu   
Contact: Necole Harris, MA, CRT    205-934-5555    nharris@uabmc.edu   
Principal Investigator: James M Wells, MD, MSPH         
Sub-Investigator: Surya P Bhatt, MD, MSPH         
Sub-Investigator: Sandeep Bodduluri, PhD         
United States, California
University of California - Los Angeles Not yet recruiting
Los Angeles, California, United States, 90095
Contact: Brian Jung    310-794-2156    djung@mednet.ucla.edu   
Contact: Roslynn McGill    310 825 2616    rmcgill@mednet.ucla.edu   
Principal Investigator: Igor Barjaktarevic, MD, PhD         
Sub-Investigator: Russell Buhr, MD, PhD         
United States, Colorado
National Jewish Health Not yet recruiting
Denver, Colorado, United States, 80206
Contact: Daniell Plomondon    303-270-2041    plomondond@njhealth.org   
Principal Investigator: Robert A Sandhaus, MD, PhD         
Sub-Investigator: Karina Serban, MD         
United States, Florida
University of Florida Not yet recruiting
Gainesville, Florida, United States, 32610
Contact: Vanessa Scheuble, CCRC    352-273-7589    vanessa.scheuble@medicine.ufl.edu   
Principal Investigator: Mark L Brantly, MD         
Sub-Investigator: Jorge Lascano, MD         
United States, Illinois
University of Chicago Not yet recruiting
Chicago, Illinois, United States, 60637
Contact: Spring A Maleckar, CCRC    773-834-4053    smaleckar@bsd.uchicago.edu   
Principal Investigator: D. Kyle Hogarth, MD         
United States, Massachusetts
Boston University Not yet recruiting
Boston, Massachusetts, United States, 02118
Contact: Mark Dodge, MPH    617-358-2413    mdodge1@bu.edu   
Principal Investigator: Andrew A Wilson, MD         
United States, New York
Columbia University Recruiting
New York, New York, United States, 10032
Contact: Alexis Fisher    212-305-3745    acf2163@cumc.columbia.edu   
Principal Investigator: Jeanine M D'Armiento, MD, PhD         
Sub-Investigator: Monica P Goldklang, MD         
United States, North Carolina
University of North Carolina Recruiting
Chapel Hill, North Carolina, United States, 27514
Contact: Caleb Hemphill, MS    984-974-2963    caleb_hemphill@med.unc.edu   
Contact: Annette Babu    984-974-2963    annette_babu@med.unc.edu   
Principal Investigator: Brad Drummond, MD, MHS         
United States, South Carolina
Medical University of South Carolina Recruiting
Charleston, South Carolina, United States, 29425
Contact: Kristin Neff    843-792-1219    neffk@musc.edu   
Contact: Susan Norton    843-792-6280    nortons@musc.edu   
Principal Investigator: Charlie Strange, MD         
Sub-Investigator: Margaret Hay, MD         
United States, Utah
University of Utah Recruiting
Salt Lake City, Utah, United States, 84108
Contact: Andriea Smith    801-587-7855    andriea.smith@hsc.utah.edu   
Contact: Lisa Weaver    801-587-7855    Lisa.weaver@hsc.utah.edu   
Principal Investigator: Cheryl Pirozzi, MD         
Sub-Investigator: Barbara Cahill, MD         
Sub-Investigator: Sean Callahan, MD         
Sponsors and Collaborators
Columbia University
National Heart, Lung, and Blood Institute (NHLBI)
Alpha-1 Foundation
Investigators
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Principal Investigator: Jeanine M D'Armiento, MD, PhD Columbia University
Study Chair: Charlie Strange, MD Medical University of South Carolina
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Responsible Party: Jeanine D'Armiento, Associate Professor of Medicine (in Anesthesiology), Columbia University
ClinicalTrials.gov Identifier: NCT05297812    
Other Study ID Numbers: AAAS8713
1UG3HL152323 ( U.S. NIH Grant/Contract )
First Posted: March 28, 2022    Key Record Dates
Last Update Posted: July 6, 2022
Last Verified: July 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: 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.
Supporting Materials: 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

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Jeanine D'Armiento, Columbia University:
Alpha-1
Biomarker
PiZZ
Additional relevant MeSH terms:
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Alpha 1-Antitrypsin Deficiency
Genetic Diseases, Inborn
Liver Diseases
Digestive System Diseases
Lung Diseases
Respiratory Tract Diseases
Subcutaneous Emphysema
Emphysema
Pathologic Processes