Gene therapy to treat Pseudoxanthoma elasticum and prevent calcification
Official title: Gene Therapy for PXE: Breaking the Barrier of Ectopic Calcification
Funded at Thomas Jefferson University · NIH-11083060 · Data updated 2026-11-12
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 start | May 2, 2024 |
| Project end | April 30, 2026 |
| Funding year | 2025 |
| Award (this year) | $185,328 |
| NIH project number | 5R21AR084212-02 |
| Project ID | NIH-11083060 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Pseudoxanthoma elasticum who have the genetic mutation affecting the ABCC6 gene.
✕Less likely to help
Patients with other forms of ectopic calcification not related to PXE may not benefit from this research.
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.
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 gone: 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
-
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.