Ottawa researchers herald breakthrough in Duchenne muscular dystrophy
Published Monday, November 16, 2015 5:24PM EST Last Updated Monday, November 16, 2015 6:46PM EST
Researchers in Ottawa have made a breakthrough in their understanding about the fatal disease Duchenne muscular dystrophy. They've discovered it is a stem cell disease and that could pave the way for better treatment for people like Alex Chiabai. Alex was just little when his parents first noticed problems with his movement. He fell often.
‘In our case, Alex was 2 and a half and had a lot of problems walking,’ says Debra Chiabai, Alex’s mother.
By the time he was 3, Alex was diagnosed with Duchenne muscular dystrophy, a disease that kills boys almost before they become men.
‘It was pretty devastating,’ says Debra of the diagnosis. Alex’s disease has since progressed and he now uses a wheelchair to motor around his house and around school. Steroids and other medications help slow the progression of the disease but can’t stop it.
‘He asked me once about life expectancy and what the disease will mean for him,’ says Debra, ‘and I said I don't know because things are changing.’
Duchenne muscular dystrophy is the most common form of muscular dystrophy, affecting one in about 36-hundred boys, slowly robbing them of muscular movement, leading to death usually before they're 30. It is caused by genetic mutations that result in the loss of the dystrophin protein, which helps tell muscle stem cells which way is up and which way is down.
Alex is now 15. He clearly understands the science behind the disease.
‘Basically, my body can't produce dystrophin and that means my muscles can't get repaired as easily,’ he explains.
His mother understands the need for hope.
‘If you don't have hope that something positive is going to come,’ says Debra, ‘it would be very easy then just to give up.’
Enter Dr. Michael Rudnicki and his team from the Ottawa Hospital and University of Ottawa. Their discovery that this is actually a stem cell disease means a whole new approach to treating it.
‘It opens up whole new vistas of investigation for us,’ says Dr. Rudnicki, the Director of Regenerative Medicine Program at The Ottawa Hospital and senior author of a study just published today in Nature Medicine, ‘not only to understand the disease but also to develop new treatments for Duchenne muscular dystrophy.’
‘For nearly 20 years,’ he says, ‘we have thought that the muscle weakness observed in patients with Duchenne muscular dystrophy is primarily due to problems in their muscle fibres, but our research shows that it is also due to intrinsic defects in the function of their muscle stem cells. This completely changes our understanding of Duchenne muscular dystrophy.’
Thirty years ago, another Canadian researcher, Dr. Ronald Worton, co-discovered the gene for Duchenne muscular dystrophy. There was great hope that new treatment options would quickly follow.
‘This has been much more difficult than we initially thought,’ says Dr. Worton, ‘but Dr. Rudnicki’s research is a major breakthrough that should renew hope for researchers, patients and families.’
The hope is that this will lead them in a whole new direction, potentially re-purposing drugs to accelerate the treatment process.
‘I think by using a cocktail of treatments and drugs,’ says Dr. Rudnicki, ‘we can convert this from a disease where patients die to a chronic disease.’
So, what does Alex say to all this?
‘I guess I would say ‘Good job.’’