Lung cell damage in alpha-1 antitrypsin deficiency
Elucidating the contribution of lung epithelial gain of function toxicity to AATD disease pathogenesis
This work tests whether toxic changes inside lung lining cells make lung disease worse for people with alpha-1 antitrypsin deficiency (AATD).
Quick facts
| Grant type | P01 program project |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston University Medical Campus NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11309142 on NIH RePORTER |
What this research studies
From a patient viewpoint, the team is looking inside the lung lining cells of people with AATD and in laboratory models to see if mutant AAT proteins cause direct cell damage beyond just low AAT levels. They will compare cells and tissues that carry the common ZZ mutation to normal controls, use cell and animal models to trace how that damage leads to emphysema, and study why some people lose lung function faster than others. They will also review data from people treated with AAT augmentation to understand why replacement therapy does not always stop disease progression. The goal is to find new targets or strategies that protect lung cells in addition to replacing AAT.
Who could benefit from this research
Good fit: Ideal candidates would be people with alpha-1 antitrypsin deficiency—especially those with the ZZ genotype and signs of emphysema—who can provide clinical information or biological samples.
Not a fit: People without AATD or whose lung disease is unrelated to AATD are unlikely to directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could point to new ways to prevent or slow lung damage in AATD by protecting lung cells as well as restoring AAT levels.
How similar studies have performed: Replacement (augmentation) therapy restores AAT levels but has had mixed results in slowing lung function loss, and studying epithelial gain-of-function toxicity is a newer approach with limited prior clinical validation.
Where this research is happening
Boston, United States
- Boston University Medical Campus — Boston, United States (Active)
Researchers
- Principal investigator: Wilson, Andrew a — Boston University Medical Campus
- Study coordinator: Wilson, Andrew a
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.