Developing treatments for a hereditary kidney disease caused by uromodulin mutations
Develop Autophagy Activators to Treat Autosomal Dominant Tubulointerstitial Kidney Disease
['FUNDING_OTHER'] · WASHINGTON UNIVERSITY · NIH-11174189
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
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | WASHINGTON UNIVERSITY (nih funded) |
| Locations | 1 site (SAINT LOUIS, UNITED STATES) |
| Trial ID | NIH-11174189 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with autosomal dominant tubulointerstitial kidney disease due to uromodulin mutations.
Not a fit: Patients with other forms of kidney disease or those without uromodulin mutations may not benefit from this research.
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 performed: 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
SAINT LOUIS, UNITED STATES
- WASHINGTON UNIVERSITY — SAINT LOUIS, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: CHEN, YING MAGGIE — WASHINGTON UNIVERSITY
- Study coordinator: CHEN, YING MAGGIE
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.
Conditions: Alport syndrome, Alport syndrome (AS, ATS), Alport syndrome-like hereditary nephritis, Alport syndrome-like hereditary nephritis (ASLHN, ASLN), Alport's Syndrome