Muscle disease

Muscle disease

Muscle disease

Muscle disease

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On any given day, stem cells in our muscles repair damage caused by exercise or injury. Under normal circumstances, these muscle stem cells maintain normal muscle function. However, in muscular dystrophies, mutations cause weaker muscle fibers, leading to chronic inflammation and overwhelming the stem cells’ ability to regenerate tissue. There are over 150 different neuromuscular disorders, with over 50,000 registered individuals in Canada affected by these conditions.

Duchenne muscular dystrophy (DMD), one of the most common types, affects about 1 in 5,000 male births, with more than 800 boys and young men currently living with DMD in Canada. DMD is caused by an absence of the protein dystrophin, with symptoms beginning as early as age three and progressively affecting muscles throughout the body, including the heart and respiratory muscles by the early teens.

Stem Cell Network researchers are investigating muscle stem cells and developing treatments for muscular dystrophy and other muscle diseases. From restoring muscle stem cell function to creating anti-fibrotic treatments that reduce scarring and support tissue regeneration, SCN-funded research addresses multiple aspects of muscle disease. From 2016-2028, SCN has invested over $2.8 million in muscle disease research.

Dr. Marie-Claude Sincennes, National Institute of Scientific Research, Quebec

Cycle 5, Round 1: Early Career Researcher Jump Start Award Uncovering the Roots of a Rare Muscular Dystrophy in Quebec

Oculopharyngeal muscular dystrophy (OPMD) is a rare, inherited disease that affects the muscles of the face, eyelids, throat, and limbs—progressing slowly and sometimes leading to wheelchair use. While rare globally, OPMD is more common in Quebec, making it a particular concern for affected families in the province.

Dr. Marie-Claude Sincennes is working to understand how OPMD develops at the cellular level. The disease is caused by mutations in a gene called PABPN1, which plays a key role in regulating gene expression. However, the exact ways this mutation disrupts muscle function remain unknown.

Her research focuses on uncovering the role of PABPN1 in muscle stem and progenitor cells—two critical cell types believed to be involved in OPMD progression. By revealing how these cells are affected, this work lays the foundation for future therapies that could slow or stop disease progression.

“To develop effective treatments for OPMD, we first need to understand what’s going wrong in the cells. Our goal is to bring clarity to the molecular drivers of this disease—and ultimately bring hope to families in Quebec and beyond.”

Dr. Natasha Chang, McGill University, Quebec

Cycle 5, Round 1: Impact Award Targeting Stem Cell Pathways to Strengthen Muscles in Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a rare but devastating pediatric muscle disease that affects 1 in every 5,000 Canadian male births. Although advances in care have extended life expectancy into early adulthood, DMD remains progressive and fatal, with no effective cure.

Historically, DMD has been considered a disease of muscle fiber breakdown—but recent studies have revealed that the muscle’s own stem cells are also impaired. These cells, essential for muscle repair, fail to function properly in people with DMD, contributing to worsening muscle weakness over time.

Dr. Natasha Chang’s research aims to restore the regenerative potential of muscle stem cells by targeting a disrupted molecular pathway known as JAK/STAT. By reactivating the ability of these cells to repair damaged tissue, her team hopes to open a new therapeutic avenue—one that could complement current approaches and offer renewed hope for stronger, healthier muscles in patients with DMD.

“We’ve discovered that stem cell dysfunction is a key part of disease progression in Duchenne muscular dystrophy. By targeting the root of this dysfunction, we hope to boost the body’s own ability to repair muscle—giving patients a stronger future.”

Dr. Fabio Rossi, University of British Columbia, British Columbia

Cycle 5, Round 1: Impact Award A New Way to Prevent Scarring and Improve Muscle Healing

Fibrosis, or excessive scarring, is a major barrier to healing in many chronic diseases and injuries. In skeletal muscle, it worsens conditions like muscular dystrophy and complicates recovery from trauma or infection by interfering with regeneration.

Dr. Fabio Rossi’s project tackles fibrosis at its root. His team, in partnership with a commercial collaborator Abcellera, has developed a molecule that blocks specific members of the TGF-beta family—key drivers of fibrosis—without disrupting those needed for immune function. This targeted approach reduces the risk of side effects seen with broader TGF-beta inhibitors.

The team will engineer cells to produce this anti-fibrotic molecule and deliver them into skeletal muscle. Using lab-grown muscle cells created from stem cells, they will transplant them into large muscle injuries in models that would normally heal with scarring. The goal is to see whether fibrosis can be reduced and healthy tissue restored.

If successful, this approach could not only improve outcomes for muscle injuries and diseases, but also open the door to broader anti-fibrotic therapies for other tissues.

“By targeting fibrosis without compromising immunity, we’re aiming to support true tissue regeneration—not just repair.”