Investigating a new drug target for treating pseudoxanthoma elasticum (PXE)
Official title: Characterization of ENTPD1 as a drug target in PXE
Funded at Thomas Jefferson University · NIH-10790152 · Data updated 2026-11-12
This study is looking at a protein called ENTPD1 to see if it can help improve treatments for people with pseudoxanthoma elasticum (PXE), a genetic condition that causes skin changes and can lead to serious health problems like vision loss and heart issues.
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 | September 20, 2023 |
| Project end | September 19, 2025 |
| Funding year | 2023 |
| Award (this year) | $377,520 |
| NIH project number | 1R21AR083597-01 |
| Project ID | NIH-10790152 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with pseudoxanthoma elasticum (PXE).
✕Less likely to help
Patients without a diagnosis of PXE or those with other unrelated conditions may not benefit from this research.
What this research studies
This research focuses on pseudoxanthoma elasticum (PXE), a genetic disorder that leads to abnormal calcium phosphate deposits in the body, causing skin changes and serious complications like vision loss and cardiovascular issues. The study aims to understand how a specific protein, ENTPD1, can be targeted to improve the management of PXE. By exploring the role of this protein in regulating mineralization, the research seeks to develop potential treatments that could prevent the progression of the disease. Patients with PXE may benefit from new therapeutic strategies that arise from this investigation.
Why it matters
Potential benefit: If successful, this research could lead to effective treatments for PXE, potentially improving patient outcomes and quality of life.
How similar studies have gone: Previous research has shown promise in targeting similar pathways for other mineralization disorders, suggesting potential for success in this approach.
Where this research is happening
-
Thomas Jefferson University
Philadelphia, United States Active
Researchers
- Principal investigator: Van de Wetering, Koen — Thomas Jefferson University
- Study coordinator: Van de Wetering, Koen
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.