Air sac (alveoli) damage and repair in Pompe disease
Alveolar injury and repair in Pompe Disease
This project looks at whether giving the missing enzyme back to lung cells helps the tiny air sacs heal in people with Pompe disease.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Duke University NIH-funded |
| Lab location | 1 site (Durham, United States) |
| Project ID | NIH-11267230 on NIH RePORTER |
What this research studies
This work focuses on the tiny air sacs (alveoli) in the lung that are damaged when the enzyme GAA is missing in Pompe disease. Researchers will study how alveolar type 1 and type 2 cells are changed by glycogen-filled lysosomes, altered surfactant, and impaired autophagy. They will test whether delivering GAA using an AAV gene-delivery approach can restore normal cell function and improve lung repair after injury in laboratory and model systems and may use patient-derived lung samples to compare findings. The team will measure surfactant proteins, cell structure, and markers of autophagy to see whether treatment reverses the problems linked to infections and respiratory decline.
Who could benefit from this research
Good fit: People diagnosed with Pompe disease—particularly those with breathing problems, recurrent respiratory infections, or evidence of lung involvement—would be the most relevant group for this research.
Not a fit: People without Pompe disease or those whose breathing issues are solely from diaphragm or motor neuron loss rather than alveolar cell damage may not benefit from this work.
Why it matters
Potential benefit: If successful, this could improve lung healing, reduce recurrent lung infections, and lower the risk of respiratory failure in people with Pompe disease.
How similar studies have performed: Preclinical studies have shown that restoring GAA can reduce glycogen in tissues and improve cell function, but direct repair of lung alveoli in humans remains largely untested.
Where this research is happening
Durham, United States
- Duke University — Durham, United States (Active)
Researchers
- Principal investigator: Elmallah, Mai — Duke University
- Study coordinator: Elmallah, Mai
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.