Developing a gene therapy for Cockayne Syndrome using AAV vectors
Optimized Production and Validation of Rationally Designed AAV Vectors for Cockayne Syndrome Gene Therapy
This study is working on a new gene therapy for people with Cockayne Syndrome, a rare genetic condition, by developing a way to deliver helpful genes to those with specific gene mutations, aiming to create a potential treatment for them.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Minnesota NIH-funded |
| Lab location | 1 site (Minneapolis, United States) |
| Project ID | NIH-10694872 on NIH RePORTER |
What this research studies
This research focuses on creating a new gene therapy for Cockayne Syndrome (CS), a rare genetic disorder that currently has no curative treatments. The team will produce and validate adeno-associated virus (AAV) vectors designed to deliver therapeutic genes to patients with mutations in the ERCC8 and ERCC6 genes. They will collect clinical data to confirm these mutations and assess the presence of antibodies that may affect the therapy's effectiveness. The goal is to establish a reliable production process for these AAV vectors to provide a potential treatment option for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Cockayne Syndrome, particularly those with identified mutations in the ERCC8 or ERCC6 genes.
Not a fit: Patients with Cockayne Syndrome who do not have the specific genetic mutations targeted by this therapy may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to a groundbreaking gene therapy that may significantly improve the quality of life and survival rates for patients with Cockayne Syndrome.
How similar studies have performed: Other research has shown success with AAV-based gene therapies for various inherited diseases, indicating a promising approach for treating Cockayne Syndrome.
Where this research is happening
Minneapolis, United States
- University of Minnesota — Minneapolis, United States (Active)
Researchers
- Principal investigator: Aslanidi, George V — University of Minnesota
- Study coordinator: Aslanidi, George V
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.