Investigating a new drug target for treating pseudoxanthoma elasticum (PXE)
Characterization of ENTPD1 as a drug target in PXE
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 ID | NIH-10790152 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with pseudoxanthoma elasticum (PXE).
Not a fit: Patients without a diagnosis of PXE or those with other unrelated conditions may not benefit from this research.
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 performed: 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
Philadelphia, United States
- 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 below.