Duchenne Muscular Dystrophy Drug Completes Phase II Trial

An Australian-developed compound for the treatment of Duchenne Muscular Dystrophy has undergone a Phase II study in the U.K.

AsianScientist (Jul. 27, 2011) – An Australian-developed compound for the treatment of Duchenne Muscular Dystrophy (DMD) has undergone a Phase II study in the U.K., the results of which were published in latest issue of The Lancet.

DMD affects one in 3,500 newborn boys and causes progressive muscle weakness, cardiomyopathy, respiratory failure, and premature death. It is caused by mutations in the essential muscle protein dystrophin.

The compound, AVI-4658, was designed at The University of Western Australia and Australian Neuro-muscular Research Institute laboratories of Professors Steve Wilton and Sue Fletcher. It works to restore dystrophin expression in patients with DMD. The trials were directed by Professor Francesco Muntoni of University College London.

A dose-escalating study involving 19 ambulant boys with DMD showed that those who received the higher dosages began to produce the missing protein dystrophin, which is essential for muscle strength and stability. The three best responders in the higher-dose group had restoration of dystrophin protein expression up to 18 percent of normal levels.

“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,” Wilton said.

The work on Duchenne Muscular Dystrophy has been a focus of the Molecular Genetic Therapy Group led by Wilton at the Australian Neuro-muscular Research Institute (ANRI) based at the Queen Elizabeth II Medical Center.

His 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 AU$711,854 grant from the Western Australian Department of Health.

The article can be found at: Cirak S. et al.(2011) 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.


Source: University of Western Australia.
Disclaimer: This article does not necessarily reflect the views of AsianScientist or its staff.

Rebecca Lim is a Singaporean-born medical doctor practising in Melbourne, Austraia. She earned her MBBS degree from Monash University, Australia.

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