Phase I/II
Molecule Biologic
Mechanism In Duchenne, the absence or near-absence of the protein dystrophin leads to muscle membrane instability and disruption of the dystrophin glycoprotein complex (DGC). Microdystrophin is a synthetic version of the dystrophin gene that is believed to retain its key components and functionality. In preclinical models, therapeutic administration of microdystrophin by adeno-associated virus (AAV) has been shown to stabilize the DGC and restore muscle function.
Impact on Duchenne The large size of the dystrophin gene has historically prevented direct replacement as a therapeutic strategy. Preclinical studies have shown that microdystrophin AAV-mediated gene transfer enables systemic delivery of the truncated gene and has the potential to slow or halt disease progression, regardless of the type of dystrophin gene mutation.