Alpha-1 Antitrypsin Disease Cohort: Longitudinal Biomarker Study of Disease

Genetic Disease Clinical Trial

— A1BC  

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT05297812
• Other study ID #: AAAS8713
• Secondary ID: 1UG3HL152323
• Status: Active, not recruiting
• Start date: March 23, 2022
• Est. completion date: January 2027

Study information

• Verified date: February 2024
• Source: Columbia University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical 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, 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.

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 286
• Est. completion date: January 2027
• Est. primary completion date: January 2027
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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, questionnaire completion, and lung function testing.

Exclusion Criteria:

1. AATD non-PiZZ status, including carriers

2. Pregnancy at the time of the screening visit

3. COPD exacerbation or other pulmonary infection within 6 weeks of baseline visit

4. Previous lung or liver transplantation or currently on the transplant list

Related Conditions & MeSH terms

• Alpha 1-Antitrypsin Deficiency
• Genetic Disease
• Genetic Diseases, Inborn

Locations

Country	Name	City	State
United States	University of Alabama at Birmingham	Birmingham	Alabama
United States	Boston University	Boston	Massachusetts
United States	University of North Carolina	Chapel Hill	North Carolina
United States	Medical University of South Carolina	Charleston	South Carolina
United States	University of Chicago	Chicago	Illinois
United States	National Jewish Health	Denver	Colorado
United States	University of California - Los Angeles	Los Angeles	California
United States	Columbia University	New York	New York
United States	University of Utah	Salt Lake City	Utah

Sponsors (3)

Lead Sponsor	Collaborator
Columbia University	Alpha-1 Foundation, National Heart, Lung, and Blood Institute (NHLBI)

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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