Investigating a new treatment target for autosomal dominant polycystic kidney disease
Official title: In vivo investigation of PKD1 upstream open reading frames as a therapeutic target in autosomal dominant polycystic kidney disease
Funded at Yale University · NIH-10997420 · Data updated 2026-11-12
This study is looking at how certain gene changes in people with autosomal dominant polycystic kidney disease (ADPKD) affect a protein that helps keep kidneys healthy, and it hopes to find ways to boost this protein to help reduce cyst growth and improve health for those living with the condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project start | December 15, 2023 |
| Project end | November 30, 2028 |
| Funding year | 2025 |
| Award (this year) | $429,937 |
| NIH project number | 5R01DK138015-02 |
| Project ID | NIH-10997420 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with autosomal dominant polycystic kidney disease, particularly those with non-truncating mutations in the PKD1 gene.
✕Less likely to help
Patients with other forms of kidney disease or those without mutations in the PKD1 gene may not benefit from this research.
What this research studies
This research focuses on autosomal dominant polycystic kidney disease (ADPKD), a condition that leads to the formation of cysts in the kidneys and liver, potentially resulting in kidney failure and severe abdominal pain. The study aims to explore the role of specific genetic mutations in the PKD1 gene and how they affect the production of a protein called Polycystin-1, which is crucial for kidney function. By increasing the expression of this protein in patients with certain mutations, the researchers hope to prevent the growth of cysts and improve patient outcomes. The approach includes using advanced genetic techniques to manipulate the expression of the PKD1 gene in laboratory models, with the goal of translating these findings into potential therapies for patients.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies that significantly improve kidney function and quality of life for patients with ADPKD.
How similar studies have gone: Previous studies have shown promise in using genetic manipulation to enhance protein expression in similar conditions, suggesting that this approach may be viable.
Where this research is happening
-
Yale University
New Haven, United States Active
Researchers
- Principal investigator: Besse, Whitney Elise — Yale University
- Study coordinator: Besse, Whitney Elise
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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.