Developing treatments for a hereditary kidney disease caused by uromodulin mutations
Official title: Develop Autophagy Activators to Treat Autosomal Dominant Tubulointerstitial Kidney Disease
Funded at Washington University · NIH-11174189 · Data updated 2026-11-12
This study is looking at a type of kidney disease caused by a gene mutation and is using special mice to learn how the body's cleaning process in cells is affected, with the hope of finding new treatments for people with this condition.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project start | September 17, 2024 |
| Project end | September 16, 2025 |
| Funding year | 2024 |
| Award (this year) | $200,000 |
| NIH project number | 1R56DK138158-01A1 |
| Project ID | NIH-11174189 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with autosomal dominant tubulointerstitial kidney disease due to uromodulin mutations.
✕Less likely to help
Patients with other forms of kidney disease or those without uromodulin mutations may not benefit from this research.
What this research studies
This research focuses on autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by mutations in the uromodulin gene, which leads to progressive kidney damage. Using a CRISPR/Cas9 approach, researchers have created a mouse model to study the disease and understand how autophagy, a cellular cleaning process, is affected. By investigating the molecular mechanisms behind autophagy deficiency in kidney cells, the research aims to identify potential new therapies for patients suffering from this condition.
Why it matters
Potential benefit: If successful, this research could lead to the development of targeted therapies that significantly improve kidney health and quality of life for patients with ADTKD.
How similar studies have gone: While the approach using CRISPR technology is innovative, similar research has shown promise in targeting genetic causes of kidney diseases, indicating potential for success.
Where this research is happening
-
Washington University
Saint Louis, United States Active
Researchers
- Principal investigator: Chen, Ying Maggie — Washington University
- Study coordinator: Chen, Ying Maggie
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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.