Genes that may cause scarring in Peyronie's and Dupuytren's disease
Official title: Validation and Identification of Genetic Variants in Peyronie's and Dupuytren's Disease that Predispose to Fibrosis and Inflammation
Funded at Utah State Higher Education System--University of Utah · NIH-11247471 · Data updated 2026-11-12
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 start | February 1, 2022 |
| Project end | December 31, 2026 |
| Funding year | 2026 |
| Award (this year) | $547,271 |
| NIH project number | 5R01DK126903-05 |
| Project ID | NIH-11247471 on NIH RePORTER |
Who could benefit from this research
✓Could help
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.
✕Less likely to help
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.
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.
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 gone: 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
-
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
Related research
Other NIH-funded projects on the same topics.
-
Identifying genetic factors in Peyronie's and Dupuytren's diseases that lead to fibrosis and inflammation
This study is looking at how certain genes might play a role in Peyronie's Disease and Dupuytren's Disease, which can cause physical changes and affect your daily life, with the hope of finding better treatments and helping those who are at risk.
-
Investigating intestinal fibrosis and inflammation in Crohn's Disease using advanced imaging techniques
This study is looking at a new way to help doctors better understand Crohn's Disease by using a special tool to see signs of inflammation and scarring in the intestines, which can help tell if a patient needs medication or surgery, ultimately aiming to improve treatment and health for those living with the condition.
-
Investigating the role of gut bacteria and genetics in Crohn's disease complications.
This study is looking at how the bacteria in your gut, your genes, and fat around your intestines can affect scarring in Crohn's disease, and it aims to create a way to spot patients who might be at higher risk for complications or flare-ups after surgery, with the hope of finding better treatments to help manage this
-
How mechanical stress affects tissue changes in Crohn's disease
This study is looking at how physical stress on the intestines might lead to complications in people with Crohn's disease, especially the narrowing of the intestines, and it hopes to find new ways to treat this issue beyond just using anti-inflammatory medications.
-
Understanding CAG repeat instability in Huntington’s disease
A Huntington’s disease study explores why the CAG repeat in the HTT gene becomes unstable and leads to earlier disease, aiming to uncover factors that influence when and how the disease starts.
-
Understanding how brain activity changes may drive Alzheimer’s disease progression in a mouse model
Researchers are testing how changes in brain signals and protein cleanup processes affect the development of Alzheimer’s disease in mice.
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.