P.076 Safety of Eteplirsen, a phosphorodiamidate morpholino oligomer, in Duchenne Muscular Dystrophy patients amenable to Exon 51 skipping

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

BACKGROUND We report clinical safety and biochemical efficacy from a dose-ranging study of intravenously administered AVI-4658 phosphorodiamidate morpholino oligomer (PMO) in patients with Duchenne muscular dystrophy. METHOD We undertook an open-label, phase 2, dose-escalation study (0·5, 1·0, 2·0, 4·0, 10·0, and 20·0 mg/kg bodyweight) in ambulant patients with Duchenne muscular dystrophy age...

Exon skipping therapy for Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is caused mostly by internal deletions in the gene for dystrophin, a protein essential for maintaining muscle cell membrane integrity. These deletions abrogate the reading frame and the lack of dystrophin results in progressive muscle deterioration. DMD patients experience progressive loss of ambulation, followed by a need for assisted ventilation, and eventual...

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy

OBJECTIVE To continue evaluation of the long-term efficacy and safety of eteplirsen, a phosphorodiamidate morpholino oligomer designed to skip DMD exon 51 in patients with Duchenne muscular dystrophy (DMD). Three-year progression of eteplirsen-treated patients was compared to matched historical controls (HC). METHODS Ambulatory DMD patients who were ≥7 years old and amenable to exon 51 skippi...

Exon skipping with morpholino oligomers: new treatment option for cardiomyopathy in Duchenne muscular dystrophy?

The dystrophin gene encodes an essential component of the transmembrane dystrophin–glycoprotein complex (DGC), which plays a critical role in maintaining membrane stability in cardiac and skeletal muscles. Defects in dystrophin destabilize the entire complex, which results in an abnormal susceptibility to sarcolemmal injury in response to contractile stress. Mutations that cause slight sequence...

AON-Mediated Exon Skipping for Duchenne Muscular Dystrophy