Researchers have never been closer to a first treatment for patients suffering from myotonic dystrophy, the most common adult form of muscular dystrophy.
According to Pascal Chartrand, professor and researcher in biochemistry and molecular medicine at Université de Montréal, a therapy is just a few years away.
If the trials are conclusive, the prodrugs could then be used in a clinical phase.
Working in collaboration with Montréal-based chemists at NuChem Thérapeutiques and with the support of AmorChem—a venture capital fund that specializes in the commercialization of life sciences research results—and Swiss pharmaceutical company Roche, which immediately saw the potential of his work, Pascal Chartrand will test a series of chemical molecules in mouse models. If the trials are conclusive, the prodrugs could then be used in a clinical phase.
The scientists have synthesized chemical compounds to stop the effect of the mutant messenger RNA produced by the pathogenic gene that is responsible for the disease. More specifically, Pascal Chartrand seeks to curb the accumulation of the defective RNA, which cannot exit the cell nucleus to transmit the recipe for the development of the protein encoded by the gene as it should and creates a toxic effect in the cell that triggers the disease.
Also known as Steinert's disease, myotonic dystrophy is a rare and incurable hereditary illness that impacts 1 in 10,000 people worldwide and 1 in 600 Québecers in the Charlevoix and Saguenay-Lac-Saint-Jean regions. Patients become unable to relax their muscles and lose muscle mass and tone, leading to fatigue, neurological impairment and a loss of autonomy. Over time, patients develop cardiac and pulmonary complications that ultimately cause disability and limit life expectancy.