The development of a molecule that will significantly improve the quality of life for boys who suffer from muscle-wasting disease has been shortlisted for the 2012 WA Innovator of the Year Awards.
Professors Sue Fletcher and Steve Wilton, from The University of Western Australia’s Centre for Neuromuscular and Neurological Disorders, and the Australian Neuromuscular Research Institute (ANRI), have been working for years on restoring the production of a function protein called dystrophin, which is missing in patients with Duchenne Muscular Dystrophy (DMD).
DMD is the most common muscle-wasting disorder affecting children, causing severe, progressive muscle loss and premature death. The disease affects about one in every 3500 boys worldwide. It is associated with specific inborn errors in the dystrophin gene, an essential protein that plays a key role in muscle strength and stability, and without this protein affected boys are in a wheelchair before the age of 12.
At least three boys with DMD are born in Perth each year.
Clinical trials on the compound developed by Professors Fletcher and Wilton, which has been licensed by UWA to Sarepta for development, were initiated in the UK and are continuing in the US.
The latest trial involved treating patients with an exon-skipping compound once a week for 48 weeks. After 36 weeks’ treatment, boys were assessed by the ‘six minute walk test’ and those who received the drug were able to walk 69.4 metres further than the boys who were on a placebo.
“The magnitude of this clinical benefit is an unprecedented treatment effect in DMD. This result represents a major advance in the pursuit of a disease-modifying treatment for this severe, progressive and life-threatening disease,” said Jerry Mendell, M.D., Director of the Centers for Gene Therapy and Muscular Dystrophy at Nationwide Children’s Hospital in Columbus, Ohio, and principal investigator of the Phase IIb study.
Details on longer-term treatment are to be released in the “Late breaking session” at the World Muscle Society Congress in Perth 9-13 October, 2012.