The trials, conducted in the United Kingdom and directed by Professor Francesco Muntoni of University College London, administered the compound, AVI-4658 designed to restore dystrophin expression in trial participants with Duchenne Muscular Dystrophy.
In a dose-escalating study, all DMD boys that received the higher dosages began to produce the missing protein dystrophin, which is essential for muscle strength and stability.
“The success is the result of an amazing collaboration of researchers and clinicians coming together to prove our concept. There is a long way still to go, but this shows we can treat the whole body,” Professor Wilton said.
The work on Duchenne Muscular Dystrophy has been a focus of the Molecular Genetic Therapy Group led by Professor Wilton at the Australian Neuro-muscular Research Institute (ANRI) based at the QEII Medical Centre.
Professor Wilton’s Group is now running additional exon skipping trials to test compounds for other DMD mutations. The trials involve DMD patients being treated at the ANRI clinic and are supported by a $711,854 grant from the Western Australian Department of Health.