Development Roadmap
From bench to bedside
Phase 0In Progress
Data Aggregation & Foundation
- •Genetic testing: SGCE c.108dup confirmed
- •Brain MRI: structurally normal
- •Neurologist referral initiated
- •Clinical master document compiled
- •Literature deep-dive complete
Phase 1Pending
Construct Design
- •AAV transfer plasmid design
- •Serotype selection (AAV2 vs AAV9/AAVrh10)
- •Validation assay design
Phase 2Pending
In Silico Validation
- •AlphaFold structural analysis
- •AAV packaging simulation
- •Molecular dynamics: DGC integration
Phase 3Pending
In Vitro Validation
- •Gene synthesis & cloning
- •HEK293T transfection
- •Neuronal cell line transduction
Phase 4Pending
Ex Vivo & Animal Validation
- •Patient-derived iPSC neurons
- •SGCE KO mouse model
- •Biodistribution & immune profiling
Phase 5Pending
Delivery & Dose Optimization
- •Stereotactic injection protocol
- •Dose-response studies
- •BBB-crossing capsid evaluation
Phase 6Pending
Safety, Regulatory & Clinical Path
- •Off-target assessment
- •Regulatory pathway navigation
- •n-of-1 IND framework