Alpha-1 antitrypsin deficiency: tracking biomarkers and disease over time
Alpha-1 Antitrypsin Disease Cohort: Longitudinal Biomarker Study of Disease
This project follows people with alpha-1 antitrypsin deficiency to find blood, imaging, and genetic markers that link to lung disease and its course.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11192245 on NIH RePORTER |
What this research studies
You would join a group of people with alpha-1 antitrypsin deficiency who are followed over time. Participants provide medical history and clinical data and may give blood, serum, or plasma samples, undergo chest imaging and lung function tests, and share genetic information so researchers can look for biomarkers and genotype–phenotype links. The team will build a prospective clinical cohort integrated with the Alpha-1 Foundation contact registry and invite selected participants into more detailed biomarker studies. Over time the project aims to map how different genetic types and biological markers relate to disease progression and clinical outcomes.
Who could benefit from this research
Good fit: Adults with confirmed alpha-1 antitrypsin deficiency (for example low AAT levels or known pathogenic genotypes), with or without COPD, who can provide samples and clinical information are ideal candidates.
Not a fit: People without alpha-1 antitrypsin deficiency or those seeking an immediate therapy rather than long-term biomarker information are unlikely to benefit directly.
Why it matters
Potential benefit: If successful, this work could produce tests that help predict lung disease progression in people with AATD and guide who might benefit from specific treatments.
How similar studies have performed: There are existing registries and cohort efforts in alpha-1 disease, but validated biomarkers that reliably predict progression remain limited, so this builds on prior work with still-unproven biomarker goals.
Where this research is happening
New York, United States
- Columbia University Health Sciences — New York, United States (Active)
Researchers
- Principal investigator: D'armiento, Jeanine M — Columbia University Health Sciences
- Study coordinator: D'armiento, Jeanine M
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.