Improving treatment for Pompe disease using genome editing
Stable therapy in Pompe disease through genome editing
This study is working on a new way to treat Pompe disease by using gene therapy to deliver the missing enzyme directly to the liver, which could help improve muscle strength for patients, especially if started early in life.
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-10887540 on NIH RePORTER |
What this research studies
This research focuses on developing a new gene therapy approach for Pompe disease, a condition caused by a deficiency in an enzyme that leads to muscle weakness. The researchers aim to create a stable method for delivering the enzyme directly to the liver early in life, potentially reversing the disease's effects. By utilizing genome editing techniques, they hope to personalize treatment for patients, addressing the limitations of current enzyme replacement therapies. The study will guide future clinical trials aimed at providing more effective genetic therapies for Pompe disease.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Pompe disease, particularly those who are 21 years or older and may benefit from early intervention.
Not a fit: Patients with advanced Pompe disease who have already experienced significant muscle damage may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to a more effective treatment for Pompe disease, improving patients' quality of life and reversing some of the debilitating symptoms.
How similar studies have performed: Previous research in gene therapy for similar lysosomal storage disorders has shown promising results, indicating potential for success in this novel approach.
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.