Exploring gene therapy for SCYL1 deficiency syndrome
Official title: Evaluating the therapeutic potential of gene replacement for SCYL1 deficiency syndrome
Funded at Indiana University Indianapolis · NIH-11011641 · Data updated 2026-11-12
This study is looking into a rare genetic disorder called SCYL1 deficiency syndrome that affects kids, and it's trying to find a way to help by testing a new gene therapy in mice that could one day improve health for those with this condition.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Indiana University Indianapolis NIH-funded |
| Lab location | 1 site (Indianapolis, United States) |
| Project start | February 1, 2025 |
| Project end | January 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $158,500 |
| NIH project number | 1R03TR004825-01A1 |
| Project ID | NIH-11011641 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children diagnosed with SCYL1 deficiency syndrome or those with genetic mutations affecting the SCYL1 gene.
✕Less likely to help
Patients with SCYL1 deficiency syndrome who do not have the specific genetic mutations targeted by this research may not benefit.
What this research studies
This research investigates a rare genetic disorder called SCYL1 deficiency syndrome, which affects children and leads to severe health issues like liver failure and neurological problems. The study aims to develop gene replacement therapy by creating mouse models that mimic the human condition, allowing researchers to test the effectiveness of restoring the SCYL1 gene function. By using advanced genetic engineering techniques, the researchers hope to provide insights into potential treatments that could improve the lives of affected patients.
Why it matters
Potential benefit: If successful, this research could lead to a groundbreaking gene therapy that alleviates the symptoms of SCYL1 deficiency syndrome and improves patient outcomes.
How similar studies have gone: While gene therapy for genetic disorders is a growing field, this specific approach for SCYL1 deficiency syndrome is novel and has not been extensively tested in prior studies.
Where this research is happening
-
Indiana University Indianapolis
Indianapolis, United States Active
Researchers
- Principal investigator: Pelletier, Stephane — Indiana University Indianapolis
- Study coordinator: Pelletier, Stephane
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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.