Are you a Health Professional? Jump over to the doctors only platform. Click Here

Muscular dystrophy trials succeed

Print Friendly, PDF & Email

An international team of researchers including West Australian molecular geneticist Steve Wilton has been recognised for its success in treating boys suffering the devastating muscle-wasting disease Duchenne’s muscular dystrophy (DMD).

The groundbreaking research has been published in the international journal, Lancet Neurology.

DMD is a relentlessly progressive and incurable muscle wasting disorder, and one of the most common serious genetic disorders to affect children around the world. Each year, at least three boys born in Perth will have the disease.

Approximately one in every 3,500 boys worldwide is afflicted with Duchenne’s muscular dystrophy, 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 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 are confined to a wheelchair by age 12. Eventually, all muscles are affected and patients experience increased difficulty in breathing.

The muscle wasting is relentlessly progressive and death usually occurs before the age of 25. There is currently no effective treatment for DMD, but for the first time in decades, there are a range of promising therapies under development.

Professor Wilton, Head of Molecular Genetic Therapies Group at the UWA Centre for Neuromuscular and Neurological Disorders, said researchers had spent years on pre-clinical work in their quest to find a cure for muscular dystrophy.


This treatment involves the intramuscular injection of an antisense molecule to restore the production of the protein dystrophin, the absence of which causes DMD.

Professor Wilton said clinical trials in the UK, using a compound developed in Perth for the treatment of DMD, had yielded exciting results.

"It has taken time but we’ve had success in these human trials in the first attempt. While the trial was not designed to cure anyone, we have shown safety and demonstrated unequivocal proof-of-concept that this form of treatment can work on human DMD muscle. We feel as though we may be able to give hope to some of those families who have been affected by this terrible disease," he said.

"While it is unlikely that we can reverse the effects of the disease in advanced cases, we are much more confident that this ‘exon skipping’ treatment may reduce the progression of the disease, improve muscle function and quality of life. These results have been so encouraging that the second trials, to deliver the compound throughout the body and aim for therapeutic improvement, started months ago in the United Kingdom."

Earlier this year Professor Wilton and his UWA colleague Research Professor Sue Fletcher were awarded more than $1.2 million in US funding for research into the treatment of the disease.

Professor Dame Kay Davies, a world expert on DMD and Professor of Anatomy at the University of Oxford, has described Professor Wilton’s research as "the most important work into a treatment for DMD in the world at the moment."

UWA has also signed an exclusive worldwide licence agreement with US-based bio-pharmaceutical company AVI BioPharma in November last year to a patent related to the treatment of DMD.


Professors Wilton and Fletcher’s work on the innovative use of antisense technology to restore dystrophin expression in DMD was showcased in the 5 December 2008 edition of the prestigious international journal Science

(Source: University of Western Australia: Lancet Neurology: September 2009)


Print Friendly, PDF & Email

Dates

Posted On: 8 September, 2009
Modified On: 16 January, 2014

Tags



Created by: myVMC