A gene-delivery treatment for Xeroderma Pigmentosum–Cockayne syndrome
Gene Therapy for Xeroderma Pigmentosum - Cockayne Syndrome.
Researchers are developing an AAV gene-delivery approach to try to prevent or slow the brain degeneration that affects people with XP‑CS, especially those with ERCC5/XPG mutations.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Minnesota NIH-funded |
| Lab location | 1 site (Minneapolis, United States) |
| Project ID | NIH-11176337 on NIH RePORTER |
What this research studies
This project uses a mouse model that closely matches the neurological problems seen in XP‑CS to improve an AAV vector that delivers the ERCC5 (XPG) gene. Researchers will test different viral capsids, promoters, delivery methods, doses, and biomarkers and will check for toxicity and safety in animals. The goal is to optimize the approach so it can move from the lab toward a first-in-human Phase 1 trial. The work is focused on steps needed to make a safe, effective gene-delivery treatment for people with this rare DNA-repair disorder.
Who could benefit from this research
Good fit: Ideal candidates would be people diagnosed with Xeroderma Pigmentosum–Cockayne syndrome, particularly those whose disease is caused by ERCC5/XPG mutations.
Not a fit: People whose condition is due to other genetic causes, those with very advanced irreversible brain damage, or those unable to access future clinical sites may not benefit from this approach.
Why it matters
Potential benefit: If successful, this work could lead to a gene therapy that slows or prevents neurodegeneration and increases life expectancy for people with XP‑CS.
How similar studies have performed: AAV gene-delivery has produced meaningful benefits in some other inherited disorders (for example SMA and inherited retinal disease), but applying it to XP‑CS and ERCC5 is novel and still untested in people.
Where this research is happening
Minneapolis, United States
- University of Minnesota — Minneapolis, United States (Active)
Researchers
- Principal investigator: Pacak, Christina a. — University of Minnesota
- Study coordinator: Pacak, Christina a.
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.