Gene therapy and corticoid steroids are just a few treatment options available for those with Duchenne
If you’ve never heard of Duchenne muscular dystrophy (DMD), you wouldn’t be the first. After all, it stands as a unique, rare, and severe form of muscular dystrophy that primarily affects boys and men and is typically diagnosed between the ages of four and seven. It is progressive, life-shortening, and currently has no cure.
Lisa McCoy, CEO of Defeat Duchenne Canada, shares insights into the organization’s ongoing mission to support research, advocacy, and care for those affected by the disease. She also highlights the therapies currently being used for the rare disease and how employers can best support their employees who may have it.
While it’s just one of over 30 types of muscular dystrophy, she explains, Duchenne is distinguished by being one of the most severe forms of inherited muscular dystrophies at the speed in which it progresses. Over time, this form predominantly impairs not only the muscles used for movement but also critical muscles such as the heart and lungs. Initially, muscle loss occurs in the thighs and pelvis, extending to the arms, which can lead to difficulties in standing up.
“It is quite progressive in nature and because there’s no cure for Duchenne, that makes this particular form of muscular dystrophy life shortening,” says McCoy. “We are really keen to be continuing to fund research that will lead to new discoveries, advancements in treatments and care for those who are diagnosed with Duchenne and support for their families.”
Common symptoms for the disease include muscle weakness, trouble standing up and scoliosis. Signs and symptoms vary from individual to individual. It is indeed a rare disease. Currently in Canada, there’s roughly an estimated 800 young boys and men who live with Duchenne. Generally, the frequency of those who have Duchenne is quite low. For males, there’s roughly 1 in 3,500 to 6,000 who will live with it, while in females, only 1 in fifty million. Those with Duchenne will initially have a life expectancy of about 28 to 30 years old.
Until relatively recently, boys with DMD usually did not survive much beyond their teen years, according to the Muscular Dystrophy Association. However, thanks to advances in cardiac and respiratory care, life expectancy is increasing and many young adults with DMD attend college, have careers, get married, and have children. Even survival into the early 30s is becoming more common than before.
“It’s become evident that over the last five years or so, a variety of different treatments have come to the forefront,” says McCoy, highlighting that one such treatment is corticoid steroids, which is “a very traditional treatment.” Steroid treatments are used for several different types of afflictions and can often come with several unpleasant side effects. Some of the new treatments that have been developed for Duchenne works in similar ways, McCoy notes, but with fewer side effects and more protective qualities for muscles.
One of the other emerging areas is gene therapy, McCoy acknowledges, as “a very exciting new avenue that could provide some transformational types of outcomes for the boys with Duchenne. There are clinical trials that are taking place, and I think for a lot of parents, they'll want to see more long-term data on the short- and long-term benefits and side effects.”
The cost of these emerging treatments is another critical concern. McCoy asserts that, even if approved in Canada, these treatments will likely come with high price tags. Despite none being offered on any benefit plans, she’s optimistic they could one day find their way to the Canadian workforce.
“It's our mission and we won't give up until they do,” she says. “We want to ensure that that the patients in Canada not only have access to these treatments, but that the treatments are affordable and within reach for them and their families. We would love to see these added to formularies into private benefit plans.”
Until then, she emphasizes the importance of employers being open to accommodating employees with Duchenne, many of whom can perform at high levels but may require specific adjustments in the workplace. For some, accommodations may be as simple as offering flexible work hours, allowing remote work or ensuring a wheelchair-friendly workplace. For others, specialized technologies might be necessary to assist with tasks like typing, especially as muscle weakness progresses. The key, she says, is for employers to be willing to listen and make adjustments that enable these individuals to contribute meaningfully.
Formerly known as Jesse’s Journey, Defeat Duchenne Canada was founded in 1995 by John Davidson, a father from London, Ontario, set out on an inspiring journey after his son Jesse was diagnosed with DMD. At the time, little was known about the disease, and research was minimal. Davidson embarked on a campaign to raise awareness and funding for research, first by pushing his son in a wheelchair across Ontario and then by walking across Canada himself a few years later.
Over nearly three decades, the organization has raised approximately $18 million for DMD research. The decision to rebrand as Defeat Duchenne Canada in 2022 was a strategic move to reflect the organization’s growing national presence and broader mission.
As for next steps, McCoy invites Canadians to get involved as the organization has named September as Duchenne Awareness Month. Accordingly, they are hosting Canada’s only Duchenne educational event on September 21-22 in Ottawa or online where participants can expect to hear from researchers, industry experts, and young men currently living with Duchenne.
“It's our job as an organization to continue to create that awareness and to do good work in funding excellent, world-renowned research,” says McCoy, noting that they’re also advocating to ensure the treatments that do come out of research are deemed to be safe, effective and available to Canadians.
“That's going to be absolute key to the successful trajectory of the disease for anyone diagnosed and certainly we want to see those lives extended and the quality of those lives be the very best they can be.”
