RESEARCH

At the Neuromuscular Centre, we work to identify cutting-edge rare disease clinical trials, and patient disease registries right here in our nation's capital.  

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Clinical trials test the safety and efficacy of new treatment medications and diagnostic devices. Patient disease registries are used to observe and collect information about a particular disease.  

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Partnered with the University of Ottawa, the Éric Poulin Centre for Neuromuscular Disease, the Children’s Hospital of Eastern Ontario Research Institute, and innovative pharmaceutical companies, we are working to test and develop new medications for neuromuscular diseases.

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We aim to use our medical discoveries to understand the nature of rare diseases and help develop new therapies for patients with neuromuscular disorders. 

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Rare Disease Research Studies 

We have formed a collaborative research team of clinicians, informaticians, and scientists with the objective to rapidly identify the genes and antibodies responsible for a wide spectrum of neuromuscular disorders present in the Canadian population, as well as to explore potential therapeutic avenues for these disorders. 

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Amyotrophic lateral sclerosis (ALS), or Lou Gehrig’s disease is a neuromuscular disease that results in a rapid decline in normal muscle function and tone leading to difficulties with mobility, eating, drinking, breathing, sleeping, and communicating. 

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Spinal muscular atrophy (SMA), is a neuromuscular disease resulting in the loss of motor neurons and progressive muscle wasting. 

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Myasthenia gravis (MG),  is a chronic autoimmune disease (where the immune system attacks receptors on cells in your body by mistake). myasthenia gravis causes muscle weakness and fatigue because of a breakdown of communication signals between nerves and muscles. Symptoms include weakness in arms and legs and drooping of the mouth and eyelids or difficulties speaking or swallowing. 

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Facioscapulohumeral muscular dystrophy (FSHD1), also known as Landouzy-Dejerine’s disease, is a genetic disorder that affects muscle function. FSHD1 presents with progressive muscle weakness affecting the face, shoulders, arms, and trunk, followed by weakness of the feet, and hips. FSHD1 causes significant physical disability. 

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Myotonic dystrophy, also called Steinert’s disease is a long-term genetic disorder that affects muscle function. It is the most common form of muscular dystrophy in adults, but can also affect children. Symptoms include gradually worsening muscle loss and weakness. Other symptoms may include impaired muscle relaxation, cataracts, intellectual disability, and heart conduction problems. 

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MYO-SHARE 

Neuromuscular diseases (NMDs) affect > 7 million people worldwide. NMDs are often difficult to accurately diagnose, with over 200 different genetic causes with overlapping clinical presentations. Muscle Magnetic Resonance Imaging (Muscle MRI) allows for non-invasive, comprehensive, and reproducible evaluation of disease-affected and spared muscles.

We aim to study the selective pattern of muscle pathology as detected by MRI of different sub-types of NMDs and validate this technique as an important and helpful non-invasive diagnostic screening tool using the Myo-Share platform.

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MYO-Share (https://myo-share.ohri.ca) is a secure, online, imaging platform developed to evaluate and to store muscle magnetic resonance imaging (MRI) and pathology images of patients with neuromuscular diseases in different centres. In MYO-Share, the images can be reviewed in a standardized DICOM (MRI) or JPEG (pathology) format and the images are stored in the secure Azure health care cloud.  

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