Gene therapy targeting kidney cells to treat cystinuria
Proximal Tubule Targeted Gene Therapy for Cystinuria
This study is testing a new gene therapy for people with cystinuria, a kidney condition that causes painful stones, by using a special virus to deliver a helpful gene directly to the kidneys, with the hope of preventing stone formation and improving kidney health for patients of all ages.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Vanderbilt University NIH-funded |
| Lab location | 1 site (Nashville, UNITED STATES) |
| Project ID | NIH-10918266 on NIH RePORTER |
What this research studies
This research focuses on developing a gene therapy approach for cystinuria, a genetic kidney disease that causes the formation of painful stones due to the inability to reabsorb cystine. The therapy aims to deliver a specific gene using a targeted adeno-associated virus (AAV) to the proximal tubule cells in the kidneys, where the deficiency occurs. By utilizing advanced genome engineering techniques, including the piggyBac transposon system, the research seeks to provide a long-lasting solution to prevent stone formation and improve kidney function. Patients may benefit from this innovative treatment at any stage of their life.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with cystinuria, particularly those with type A cystinuria caused by SLC3A1 deficiency.
Not a fit: Patients with cystinuria caused by other genetic mutations or those who do not have cystinuria may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could provide a safe and effective treatment option for patients suffering from cystinuria, potentially preventing kidney damage and improving quality of life.
How similar studies have performed: Previous research has shown promise in using gene therapy for monogenic diseases, indicating potential success for this novel approach in treating cystinuria.
Where this research is happening
Nashville, UNITED STATES
- Vanderbilt University — Nashville, United States (Active)
Researchers
- Principal investigator: Peek, Jennifer — Vanderbilt University
- Study coordinator: Peek, Jennifer
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.