AAV1-miRNA-DES

AAV1-miRNA-DES is an investigational adeno-associated virus serotype 1 (AAV1)-based gene therapy designed for the treatment of desminopathy, a rare genetic skeletal muscle disorder caused by mutations in the DES gene. Developed through a collaboration between Newcastle University and Nationwide Children's Hospital, the therapy utilizes a single-vector 'knockdown-and-replace' strategy. It delivers microRNAs (miRNAs) designed to suppress endogenous (both mutant and wild-type) desmin expression, alongside a codon-optimized DES transcript engineered to be resistant to miRNA-mediated silencing. This dual mechanism aims to clear toxic desmin aggregates while restoring functional desmin protein expression to rescue normal muscle function.