The Neuro tackling common form of muscular dystrophy in Quebec through clinical trial

Wheelchairs await non-ambulatory patients at the University of Calgary Medical Clinics in Calgary, Alta., Thursday, Nov. 17, 2022.THE CANADIAN PRESS/Jeff McIntosh

The Montreal Neurological Institute-Hospital is tackling a form of muscular dystrophy relatively common in Quebec in a phase-three clinical trial for which participants are currently being recruited.

Facioscapulohumeral muscular dystrophy (FSH) is characterized by weakness of the muscles of the face and upper body. It eventually leads to weakness of the trunk muscles and causes difficulty walking long distances.

FSH is the third most common type of muscular dystrophy globally, but it's particularly prevalent in Quebec due to the founder's effect.

Because of its subtle early symptoms, the disease often goes undetected for the first few years, and patients are often not diagnosed until their 20s and 30s, explained Dr. Olivier Blanchard.

"It often runs in families without a diagnosis," said Blanchard, who is one of the research project leaders. "If Dad is like that, and Grandpa has always had shoulder blade weakness and he's not able to lift his arms, then it kind of goes unnoticed because everyone in the family, or every other member, is like that."

He said that half of the parents affected by the disease will pass it on to their children.

FSH is caused by a gene that "is not easy to target," Blanchard said, which means few clinical trials have addressed it and no treatment is available at this time.

The DUX-4 gene is responsible for muscle development in the embryo. While it's usually silent after birth, it remains active in people with FSH and eventually has harmful effects, even causing muscle cell death.

The drug to be tested in this clinical trial showed promising results in previous phases. The phase-three trial starting at The Neuro will focus more specifically on the efficacy of the treatment.

Three Canadian sites, including The Neuro, are participating in this project.

This report by The Canadian Press was first published in French on April 11, 2023.