NMD4C members awarded CIHR grants for oculopharyngeal dystrophy, spinal muscular atrophy research
The NMD4C is happy to share that two project applications from NMD4C members on oculopharyngeal dystrophy (OPMD) and spinal muscular atrophy (SMA) have been awarded Canadian Institute of Health Research (CIHR) research grants in their recent round of funding decisions!
A comprehensive study of the natural history of OPMD: An essential step towards clinical trial readiness and evidence-based interventions
Led by NMD4C investigator Dr. Cynthia Gagnon, this project has been awarded $820, 846 over a 5-year period, and includes fellow NMD4C investigators Dr. Bernard Brais as a principal investigator, Dr. Hanns Lochmüller as a co-applicant, Dr. Homira Osman as a collaborator and Dr. Élise Duchesne, early-career member of the NMD4C, as an investigator. Other NMD4C members on this project include Dr. Luc Hébert as a principal investigator, Dr. Benjamin Gallais as a co-applicant, Claudia Côté and Dr. Xavier Rodrigue as collaborators, and project collaborators Dr. Djamal Barbiche, Dr. Nancy Presse, and Dr. Jean-Denis Brisson.
The study involves four data collection sites (Saguenay, Québec, Montréal and Ottawa) and will address the impact of OPMD over time in the lives of those affected by these neuromuscular disorders. The study will involve the use of NMD4C-related activities including the Canadian Neuromuscular Disease Registry, biobanking resources, and the network’s knowledge translation expertise.
In addition to dysphagia, the team will document several characteristics related to their physical performances, such as walking capacities and muscle strength. Also, the study will look at their participation in daily activities, such as the ability to move in their house and communities, and to perform sports and leisure activities. The research team will also be able to select the best instruments to assess the key problems in this disorder such as muscle weakness and fatigue.
This study will provide essential data to help speed up therapeutic trials in this population by documenting natural history and informing outcome measures selection.
The scientific summary can be found here!
Extracellular vesicles as a biomarker and therapeutic for Spinal Muscular Atrophy
Led by NMD4C member Dr. Robin Parks, this project has been awarded $960,076 over a 5-year period and includes Dr. Rashmi Kothary (NMD4C steering committee member), Dr. Jodi Warman Chardon (NMD4C steering committee member) and Dr. Panayotis Vacratsis from the University of Windsor as co-investigators.
SMA is a devastating disorder primarily affecting newborns and young children, caused by reduced levels of the survival motor neuron (SMN) protein. Although normally present in all cells of the body, reduced levels of SMN protein results in degeneration of motor neurons, leading to muscle weakness and, in the case of severe disease, death.
A small proportion of SMN protein is naturally released by cells in small “bubbles” called extracellular vesicles (EV). This study will evaluate whether analysis of EV isolated from patient blood can be used as a marker for the disease state, which may allow the development of a blood test to monitor the effectiveness of therapeutics.
The NMD4C are happy to see members obtaining positive funding decisions in a competitive application process, and would like to congratulate them on their success! The network is proud to have leading Canadian neuromuscular researchers as members and will continue the network’s work in supporting the neuromuscular research community in Canada.
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