Gene therapy to treat Pseudoxanthoma elasticum and prevent calcification
Gene Therapy for PXE: Breaking the Barrier of Ectopic Calcification
This study is working on a new gene therapy for people with Pseudoxanthoma elasticum (PXE) by using a special virus to deliver a healthy gene to the liver, which could help stop the harmful calcification caused by the condition.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Thomas Jefferson University NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11083060 on NIH RePORTER |
What this research studies
This research focuses on developing a gene therapy for Pseudoxanthoma elasticum (PXE), a genetic disorder that leads to harmful calcification in connective tissues. Using mouse models that mimic the disease, the researchers aim to deliver a healthy copy of the ABCC6 gene to the liver using a specific viral vector known as AAV8. This approach seeks to restore the normal function of the ABCC6 protein, which is crucial for preventing ectopic calcification. If successful, this therapy could provide a targeted treatment option for individuals suffering from PXE.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Pseudoxanthoma elasticum who have the genetic mutation affecting the ABCC6 gene.
Not a fit: Patients with other forms of ectopic calcification not related to PXE may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to a groundbreaking treatment that prevents the debilitating calcification associated with PXE.
How similar studies have performed: Previous research using AAV-based gene therapy has shown success in treating other genetic disorders, suggesting a promising potential for this approach in PXE.
Where this research is happening
Philadelphia, United States
- Thomas Jefferson University — Philadelphia, United States (Active)
Researchers
- Principal investigator: Li, Qiaoli — Thomas Jefferson University
- Study coordinator: Li, Qiaoli
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.