Principal Investigator
Kenneth Alexis Myers
The Research Institute of the McGill University Health Centre
Project of $347,973 over 2 years
- Supported by CQDM through:
Ministère de l’Économie, de l’Innovation et de l’Énergie du Québec (MEIE) - And by co-funding partner:
– Liam Pharma for Mitochondrial Disease Inc.
Challenge
Mitochondrial DNA depletion disorders are rare genetic diseases that affect how our cells produce energy. They occur when an enzyme responsible for making DNA in the energy-producing part of our cells, called the mitochondria, does not function properly. This can lead to seizures, cognitive difficulties, liver problems, generalized weakness, hearing loss, heart abnormalities, and more. Unfortunately, there are currently no effective treatments for these conditions. Symptoms usually begin in childhood and worsen over time, often leading to premature death.
Solution
In this project, the research team led by Dr. Myers, in collaboration with the Quebec-based company Liam Pharma for Mitochondrial Disease Inc., will investigate how individuals with mitochondrial DNA depletion disorders respond to two key components needed for mitochondrial DNA production: deoxycytidine and deoxythymidine. In parallel, as part of earlier work leading up to this project, the research group has been assessing whether these components are safe for people affected by these disorders. So far, results after 24 months of treatment are encouraging, suggesting that these compounds are safe and may significantly improve patients’ well-being. The research team therefore proposes to expand the current study to include more patients, to confirm these preliminary results, and to demonstrate the safety and effectiveness of this treatment for individuals living with these disorders.
Expected Achievements/Impact
This treatment is of critical importance, as it holds the potential to significantly improve the health and quality of life of patients with mitochondrial DNA depletion disorders. Beyond addressing pressing public health challenges, it will enable the small Quebec-based company, Liam Pharma for Mitochondrial Disease Inc., to bring one of the first treatments for this condition to market. Additionally, the costs associated with patient monitoring, including frequent hospital visits, would be drastically reduced, significantly lessening the burden on the healthcare system.
