Understanding the genetic causes of Alport syndrome
Molecular Pathobiology of Alport Syndrome
['FUNDING_R01'] · VANDERBILT UNIVERSITY MEDICAL CENTER · NIH-11114075
This study is looking at how certain gene changes cause Alport syndrome, which affects kidney health, and it aims to find new treatments that could help people with this condition feel better.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | VANDERBILT UNIVERSITY MEDICAL CENTER (nih funded) |
| Locations | 1 site (NASHVILLE, UNITED STATES) |
| Trial ID | NIH-11114075 on ClinicalTrials.gov |
What this research studies
This research investigates the genetic variants in the COL4A3, COL4A4, and COL4A5 genes that lead to Alport syndrome, a condition affecting kidney function. By using a new animal model, the researchers aim to uncover how these genetic changes disrupt the glomerular basement membrane, which is crucial for kidney health. The study will also explore potential new therapies, including protein replacement and small molecule treatments, to improve outcomes for patients with this condition.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Alport syndrome or those carrying pathogenic variants in the relevant genes.
Not a fit: Patients with Alport syndrome who do not have the specific genetic variants being studied may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapies that significantly improve kidney function and quality of life for patients with Alport syndrome.
How similar studies have performed: Previous research has shown promise in understanding genetic causes of kidney diseases, but this specific approach to Alport syndrome is relatively novel.
Where this research is happening
NASHVILLE, UNITED STATES
- VANDERBILT UNIVERSITY MEDICAL CENTER — NASHVILLE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: HUDSON, BILLY GERALD — VANDERBILT UNIVERSITY MEDICAL CENTER
- Study coordinator: HUDSON, BILLY GERALD
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