A promising treatment for Duchenne muscular dystrophy (DMD) could open the way to therapies for cystic fibrosis, spinal muscular atrophy and other disorders.
The drug eteplirsen, now in phase three clinical trials, is performing “exceedingly well” and slowing the progress of DMD, says Steve Wilton of the Centre for Comparative Genomics at Murdoch University.
Steve and his colleague Sue Fletcher have worked with their team on the treatment over the last decade, and now with the help of almost $800,000 from the National Health and Medical Research Council, they will see if the technology can be applied to other diseases.
Steve says there is potential for a huge range of applications.
Most forms of muscular dystrophy are caused by ‘spelling mistakes’ in genes. In DMD, these prevent the production of the protein dystrophin. Without this cellular shock absorber, muscle fibres are more fragile and prone to rupture.
DMD affects approximately one in 5000 males born worldwide; those affected usually need a wheelchair by age 12.
Eteplirsen works by removing the disease-causing part of the dystrophin gene message in boys with the most common type of genetic fault, allowing a working version of the protein to be made.
Steve and Sue received the NSW Health Jamie Callachor Eureka Prize for Medical Research Translation in 2013 for their research.
Further studies have begun using additional drugs for different mutations in other parts of the dystrophin gene, and treating both younger boys and those who are no longer able to walk.
Rare genetic disorders affect more than 400,000 Australians, and treatment options are limited for most of them. Because the diseases are individually uncommon, it is often difficult to secure funding to perform research on these conditions.