PiMZ Longitudinal Cohort (PiMZ Logic)

About

Brief Summary

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.

Study Type

Observational

Phase

N/A

Eligibility

Gender

All

Healthy Volunteers

No

Minimum Age

18 Years

Maximum Age

N/A

Inclusion Criteria:

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

Exclusion Criteria:

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