Genes that may cause scarring in Peyronie's and Dupuytren's disease
Validation and Identification of Genetic Variants in Peyronie's and Dupuytren's Disease that Predispose to Fibrosis and Inflammation
Researchers are looking for gene changes that might make people more likely to develop the scarring that causes Peyronie's and Dupuytren's disease.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Utah State Higher Education System--University of Utah NIH-funded |
| Lab location | 1 site (Salt Lake City, United States) |
| Project ID | NIH-11247471 on NIH RePORTER |
What this research studies
This project studies three candidate genes (NELL1, CTDSPL, and ZNF277) that prior work suggests may influence scarring and inflammation in Peyronie's and Dupuytren's disease. Scientists will use lab-based cell tests and animal models to see how changes in these genes affect collagen buildup and inflammatory signals. The team aims to validate genetic variants previously found in patients and understand how altered gene function leads to plaque or nodule formation. Results will be used to connect genetic findings to the biological processes that drive these conditions.
Who could benefit from this research
Good fit: People with Peyronie's disease or Dupuytren's contracture, particularly those with a family history or both conditions, would be most relevant to this research.
Not a fit: Patients seeking immediate relief from symptoms should not expect direct short-term benefit because the work is laboratory and preclinical rather than a treatment trial.
Why it matters
Potential benefit: If successful, the work could point to genetic causes and biological pathways that enable new tests or treatments to prevent or reduce scarring.
How similar studies have performed: Previous genetic studies have found candidate changes linked to inflammation and fibrosis, but translating those findings into therapies remains largely untested.
Where this research is happening
Salt Lake City, United States
- Utah State Higher Education System--University of Utah — Salt Lake City, United States (Active)
Researchers
- Principal investigator: Pastuszak, Alexander Wojciech — Utah State Higher Education System--University of Utah
- Study coordinator: Pastuszak, Alexander Wojciech
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.