AAV gene delivery approach for CLN1 (infantile Batten disease) using a sheep model
Characterizing and testing the efficacy of AAV-mediated gene therapy in a sheep model of CLN1 disease.
Seeing if delivering a healthy PPT1 gene with a harmless virus into the brain and spinal cord can prevent or slow CLN1 (infantile Batten disease) in children by refining the approach in a sheep model.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project ID | NIH-11169920 on NIH RePORTER |
What this research studies
Researchers are using a CRISPR-generated sheep that carries the CLN1 R151X mutation to test AAV9 viral delivery of a working PPT1 gene into brain and spinal cord regions most affected by the disease. They will study where the virus spreads, how much enzyme is produced, and whether treated sheep show improved neurologic function and survival compared with untreated animals. The team will test different doses and delivery routes to optimize safety and reach in a larger brain that better resembles a child’s nervous system. Findings will be used to design safer, more effective gene therapy approaches for infants and young children with CLN1.
Who could benefit from this research
Good fit: Children with genetically confirmed CLN1 (infantile Batten disease), especially very young infants before severe, irreversible neurodegeneration, would be the ideal candidates for the resulting therapy.
Not a fit: People with other forms of Batten disease, adults with advanced, irreversible brain damage, or those without a CLN1 mutation are unlikely to benefit from this specific approach.
Why it matters
Potential benefit: If successful, this work could lead to a gene therapy that slows or stops neurodegeneration and improves survival and function for children with CLN1.
How similar studies have performed: AAV-based gene replacement produced strong benefits in CLN1 mouse models and AAV therapies have helped other pediatric brain disorders, but success in larger brains and clinical translation for CLN1 is still unproven.
Where this research is happening
Saint Louis, United States
- Washington University — Saint Louis, United States (Active)
Researchers
- Principal investigator: Cooper, Jonathan D — Washington University
- Study coordinator: Cooper, Jonathan D
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.