Gene therapy approaches for cystinuria and related metabolic effects
Genome engineering therapeutics for cystinuria and its metabolic consequences.
Using viral and gene-insertion tools to fix the faulty cystine-transport gene in people with cystinuria to help prevent recurrent kidney stones.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Veterans Health Administration NIH-funded |
| Lab location | 1 site (Nashville, United States) |
| Project ID | NIH-11264849 on NIH RePORTER |
What this research studies
Researchers are using adeno-associated virus (AAV) and piggyBac transposon tools to deliver a healthy SLC3A1 gene into kidney cells in mouse models, testing treatment in both newborn and adult animals. They are developing and testing AAV vectors that target proximal tubule cells, the kidney location where cystine transport is defective. The team will also test AAV delivery into human kidney organoids, including organoids that model cystinuria, to check for long-term gene expression and correction of cellular defects. These preclinical steps are intended to build safety and proof-of-concept data needed before human trials.
Who could benefit from this research
Good fit: Adults with genetically confirmed cystinuria (especially SLC3A1-related cystinuria) and a history of recurrent cystine stones would be the most likely candidates for future trials.
Not a fit: People with kidney stones from noncystine causes, cystinuria due to other genetic mechanisms not targeted here, or those who cannot receive AAV-based therapies may not benefit.
Why it matters
Potential benefit: If successful, this approach could restore normal cystine transport in the kidney and reduce or prevent recurrent cystine kidney stones.
How similar studies have performed: AAV-based gene therapies have succeeded for some other diseases, but targeted, long-term gene correction in the kidney using hybrid AAV-transposon methods is largely experimental and not yet widely proven.
Where this research is happening
Nashville, United States
- Veterans Health Administration — Nashville, United States (Active)
Researchers
- Principal investigator: Wilson, Matthew H — Veterans Health Administration
- Study coordinator: Wilson, Matthew H
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.