The trial, led by Professor Jerry Mendell, from Nationwide Children’s Hospital in Columbus, Ohio, with the US-based pharmaceutical company AVIBioPharma, systematically administered the compound Eteplirsen (previously called AVI-4658) to boys with Duchenne Muscular Dystrophy (DMD) and found more consistent stimulation of the missing protein dystrophin after extended treatment.
The compound is designed to modify dystrophin gene expression and bypass the disease-causing gene lesion, restoring expression of dystrophin in trial participants with DMD.
Professor Wilton said the results were reported after 24 weeks of treatment and the trials would continue until 52 weeks. Trial participants who received a higher dose of the drug over a shorter period did not show such a consistent response.
Researchers were planning to reveal the one-year results at the World Muscle Society meeting to be held in Perth, Western Australia from October 9 to 13, 2012, he said.
Professor Wilton and Professor Fletcher are renowned pioneers in the use of exon skipping to treat DMD and other diseases. Their work on DMD continues to be a focus of the Molecular Genetic Therapy Group at the Australian Neuromuscular Research Institute, based at the QEII Medical Centre.
About Duchenne Muscular Dystrophy (DMD): DMD is one of the most common fatal genetic disorders to affect children around the world. Approximately one in every 3500 boys worldwide is afflicted with DMD, with one third of cases presenting with no prior family history of disease. DMD is a devastating and incurable muscle-wasting disease associated with specific errors in the gene that encodes dystrophin, a protein that plays a key role in muscle fibre function and stability.
Symptoms usually appear in boys before the age of 6 years. At this age, affected boys have difficulty in keeping up with their peers, may appear clumsy and fall easily. By age 10, boys have difficulty walking, and patients are confined to a wheelchair by age 12. Eventually, all muscles are affected and patients experience increased difficulty in breathing.
The condition is terminal and death usually occurs before the age of 30. The outpatient cost of care for a non-ambulatory DMD boy is among the highest of any disease. There is currently no cure for DMD, but for the first time in decades, a range of promising therapies is under development.
Professor Steve Wilton (UWA Centre for Neuromuscular and (+61 8) 9346 3967 / (+61 4) 17 982 365
Neurological Disorder; Australian Neuromuscular Research Institute)
Michael Sinclair-Jones (UWA Public Affairs) (+61 8) 6488 3229 / (+61 4) 00 700 783