Brief Title
Alpha-1 Antitrypsin Disease Cohort: Longitudinal Biomarker Study of Disease
Official Title
Alpha-1 Antitrypsin Disease Cohort: Longitudinal Biomarker Study of Disease - Alpha-1 Biomarker Research Consortium (A1BC)
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.
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 Type
Observational [Patient Registry]
Primary Outcome
Change in lung density over three years
Condition
Alpha 1-Antitrypsin Deficiency
Study Arms / Comparison Groups
Moderate to Advanced Emphysema
Description: Patients with moderate or advanced Emphysema as measured by baseline inspiratory PERC-15 below the study median
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Estimated Enrollment
270
Start Date
March 23, 2022
Completion Date
February 2026
Primary Completion Date
February 2026
Eligibility 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
Gender
All
Ages
18 Years - N/A
Accepts Healthy Volunteers
No
Contacts
Jeanine M D'Armiento, MD, PhD, 212-305-3745, [email protected]
Location Countries
United States
Location Countries
United States
Administrative Informations
NCT ID
NCT05297812
Organization ID
AAAS8713
Secondary IDs
1UG3HL152323
Responsible Party
Principal Investigator
Study Sponsor
Columbia University
Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
Study Sponsor
Jeanine M D'Armiento, MD, PhD, Principal Investigator, Columbia University
Verification Date
July 2022