| Gene Symbol | ent-gene-45ba9650 |
| BIIB078 (Biogen/Ionis) | First-generation ASO targeting the expanded repeat. Completed Phase 1/2 trial but showed limited efficacy, leading to program discontinuation. |
| WVE-004 (Wave Life Sciences) | Stereopure ASO targeting C9orf72 transcript variants. Completed Phase 1/2 with modest results. |
| Next-generation ASOs | Newer approaches focus on allele-selective targeting and improved CNS delivery. |
| DPR aggregation inhibitors | Multiple programs targeting poly-GA, poly-GP, and poly-PR aggregation |
| Autophagy enhancers | Targeting the lysosomal/autophagy pathway impaired in C9orf72 deficiency |
| Nucleocytoplasmic transport modulators | Addressing the major downstream defect |
| AAV-based gene silencing | Viral vector delivery of shRNA or miRNA constructs |
| CRISPR-based editing | Emerging approaches for allele-specific editing |
| Gene replacement | Restoring normal C9orf72 function |
| ALS | ~30,000-50,000 patients in the US, with C9orf72 accounting for ~10,000-15,000 cases |
| FTD | ~50,000-60,000 patients in the US, with C9orf72 accounting for ~10,000-15,000 cases |
| KG Connections | 6 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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