Montreal researchers are joining an international study to learn more about a little-understood genetic disease that is found in Canada, and especially in Quebec and in Acadian regions of the Maritimes.
Dr. Massimo Pandolfo of the Montreal Neurological Institute is among the experts collecting research about Friedreich’s ataxia, a condition that causes progressive mobility limitations as well as other issues, including cardiac problems.
"This is a genetic, neurodegenerative and systemic disease that causes substantial disability, even in young individuals," he said in a phone interview. "It most commonly starts during childhood or adolescence and leads to the inability to walk within 10, 15, 20 years."
Pandolfo said patients across Canada are eligible to participate in the observational study, which involves taking a lengthy MRI, some blood tests and a physical examination. He said patients who volunteer will help researchers better understand the disease and help guide the development of therapies.
“While there's no cure, we have a number of potential promising competing treatments that we need to test in the most efficient possible way," he said. "So this is basically the goal: to learn more about the disease and how it affects the central nervous system, the brain, in particular, and the cerebellum."
Pandolfo says Friedreich's ataxia is caused by a mutation that "has probably arisen only once in human history." It is only found in some regions of the world, most commonly in western and southern Europe.
It is also more prevalent in Quebec and in Acadian regions of the Maritimes, home to the ancestors of many people from western France, where it is comparatively common, Pandolfo says.
Two people living with Friedreich's ataxia who volunteered for the study say they're happy to help contribute to new research, and to get the chance to connect with people who understand their illness.
While Friedreich's ataxia is one of the more common rare diseases — with about 15,000 affected individuals worldwide, according to the Friedreich’s Ataxia Research Alliance — Brittany Sommerfield, from Winnipeg, says most people she meets have never heard of it.
"I kind of just say it's similar to ALS just to keep things short and simple without having to go into details," the 29-year-old said. "Of course there are lots of differences, but it is difficult, no one understands, really."
Sommerfield, who was diagnosed in 2007 at the age of 13, uses a wheelchair full time. She maintains a busy life that includes casual work in the travel industry, volunteering at a zoo, work with the Friedreich's Ataxia Research Alliance and participating in research studies such as the one in Montreal.
She says she enjoys contributing to expanding the knowledge about Friedreich's ataxia, and maybe even playing a role in finding new treatments. "If it's beneficial in any way, even if it's really tiny, I still love that," she said.
Megan Dewar, a resident of B.C., says she found it "empowering" to join the study because it gave her the rare chance to meet in person with researchers who specialize in Friedreich's ataxia.
"I've never really even met anyone who knows what it is, aside from my own doctors," she said.
Dewar said she sought medical attention in her mid-teens after experiencing symptoms such as poor balance and slurred speech, but only received a diagnosis about two years later because the condition is relatively unknown.
Dewar said that for her, living with Friedreich's ataxia is a process of "constantly adapting to the different needs of the day, of the month, of the year," and navigating a world that often isn't designed for people with disabilities.
Pandolfo said the study, which includes participants in Australia, Europe, the United States, Brazil and Canada, will take about two years to complete. He said the Montreal researchers are hoping to recruit a few more patients from across Canada by the end of the month, noting that all travel costs are covered for volunteers.
This report by The Canadian Press was first published Aug. 16, 2023.
Morgan Lowrie, The Canadian Press