The Muscular Dystrophy Association of the United States has awarded a researcher from The University of Western Australia more than $400,000 over three years to improve his revolutionary treatment of Duchenne Muscular Dystrophy (DMD).
Head of UWA's Molecular Genetic Therapies Group Professor Steve Wilton has been working on his unique genetic technology for more than 14 years. It uses molecules called anti-sense oligonucleotides which Professor Wilton calls "genetic band-aids". He uses them to trick the body's gene-transcript processing machinery to "skip over" the flawed parts of the dystrophin pre-mRNA that lead to DMD, enabling muscles to produce nearly fully-functional dystrophin protein in some cases.
"It's been very gratifying to go from a concept that we've demonstrated in vitro to completion of a clinical trial. It seems like it has taken forever, but in drug-development terms it is very quick," Professor Wilton said.
Termed exon-skipping, it is one of the best hopes for a therapy for DMD and several other genetic diseases. The new project will test the suitability of an alternative form of Professor Wilton's genetic band-aids, known as methoxyethyl oligomers (MOE).
Professor Wilton meets about 1,000 DMD-affected families a year from around the world. "It's a way of keeping very motivated to drive this work forward," he said.
"Exon skipping has the potential to reduce the severity of the disease in about 80% of DMD individuals. We are very excited and optimistic about the possibility of our treatment, making a difference to the lives of people suffering from this devastating disease."
DMD, a relentlessly progressive muscle wasting disorder, is one of the most common fatal genetic disorders to affect children around the world. Approximately one in every 3,500 boys worldwide is afflicted with DMD, with one third of cases presenting with no prior family history of disease. The devastating and incurable muscle-wasting disease is associated with specific errors in the dystrophin gene that encodes a protein that plays a key structural role in muscle fibre function and stability.
Symptoms usually appear in boys before the age of six 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.
Professor Steve Wilton (UWA Centre for Neuromuscular and Neurological Disorder; Australian Neuromuscular Research Initiative) (+61 8) 9346 3967
Janine MacDonald (UWA Public Affairs) (+61 8) 6488 5563 / (+61 4) 32 637 716