Long-lasting gene fix for Pompe disease
Stable therapy in Pompe disease through genome editing
This project will use liver-directed genome editing early in life to create a lasting source of the missing GAA enzyme for 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-11143691 on NIH RePORTER |
What this research studies
Researchers are developing genome editing delivered to the liver so the organ can act as a steady factory for the missing GAA enzyme. They plan to use AAV-based delivery and personalized editing approaches, focusing on treatments given early in life. The team will study effects on both muscle and nervous system problems that current enzyme replacement therapy does not fully fix. Their preclinical translation work is intended to guide future human trials for people with Pompe disease.
Who could benefit from this research
Good fit: Ideal candidates would be people with Pompe disease who lack functional GAA, especially infants or young patients who could benefit from early-life, liver-directed genome editing.
Not a fit: Patients with very advanced, irreversible muscle or respiratory damage, or those with preexisting immunity to AAV vectors, may not benefit from this approach.
Why it matters
Potential benefit: If successful, this approach could provide a long-lasting one-time treatment that restores GAA enzyme levels and improves muscle and nervous system function compared with ongoing enzyme replacement infusions.
How similar studies have performed: AAV gene therapies and enzyme replacement have helped some patients, but using genome editing to create a stable liver depot for GAA is novel and largely untested in humans.
Where this research is happening
Durham, United States
- Duke University — Durham, United States (Active)
Researchers
- Principal investigator: Koeberl, Dwight D — Duke University
- Study coordinator: Koeberl, Dwight D
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.