Thanks to generous, forward-thinking donors, MDC funds high-quality research across all neuromuscular disorders, that can advance knowledge and practice in the following areas and ultimately lead to cures for neuromuscular disorders:
2023
Lead investigator
Dr. Francesco Saverio Tedesco
University College London
London, United Kingdom
Research/Clinical Sites & Affiliations
Funding partners: Muscular Dystrophy Canada , Cure CMD
Budget: $65,000 USD
Disorders: Collagen 6-related dystrophy (Bethlem and Ullrich congenital muscular dystrophies)
Research Areas: Discover Novel Treatments & Therapies
Grant summary:How changes in Col6 gene lead to the various symptoms seen in Col6-RD is still a poorly understood which limits amongst others clinical trial development and identification of potential drug targets. This study will develop 3D muscles created from patient-derived iPSC- myogenic and fibrogenic cells, a critical step to further understanding this disorder as well as establishing genetically relevant models to test future COL6-RD therapies.
2023
Lead investigator
Dr Eric Voorn
Amsterdam UMC, University of Amsterdam
Amsterdam, Netherlands
Collaborators & Co-Investigators
Research/Clinical Sites & Affiliations
Budget: $100,000
Disorders: Oculopharyngeal muscular dystrophy
Research Areas: Enhance Care
Grant summary:People with muscle disorders often ask advice on exercise. There is evidence for positive effects of exercise and that it is safe. Most of the studies were done in the hospital or rehabilitation center. This has some clear disadvantages. Travelling to and from the center is tiring for many people with muscle disorders. It also leads to high health care costs. An exercise program in the home environment may be a solution. There is however a lack of home-based programs for people with muscle disorders. Our team developed such an exercise program, called B-FIT in the Netherlands. B-FIT supports health care professionals to tailor the program to the patient. It can also be used to take exercise away from the hospital into the home or community. B-FIT was proven to be successful in the Netherlands. Now many health care professionals are using it there. The use of B-FIT may also be helpful for people living with muscle disorders in Canada. In this project, 20 persons with the muscle disorder called oculopharyngeal muscular dystrophy (OPMD) living in Quebec will follow the B-FIT exercise program. They will train in their own home. The program will be supervised by a trained physiotherapist. After the program, we will ask patients and therapists if they were satisfied with the use of the training guide. We will also evaluate physical fitness. We expect that physical fitness will be improved after the exercise program. This will help people with OPMD to maintain their independency and to improve their quality of life.
2023
Lead investigator
Dr Gloria Mak
University of Alberta
Edmonton, AB
Research/Clinical Sites & Affiliations
Budget: $80,000
Disorders: All Neuromuscular Disorders
Grant summary:About Dr Mak: Dr Mak completed obtained her doctor of philosophy and medical degrees from the University of Calgary and will be completing her Adult Neurology residency training at McMaster University. During residency, Dr Mak was involved in a number of patient safety and clinicopathological initiatives. She has a keen interest in the diversity and complexity of neuromuscular medicine. Dr Mak is excited to undertake fellowship training in neuromuscular medicine, as it will cultivate her skills in neuromuscular medicine, and allow her to be involved in research initiatives aimed at advancing the care of patients with neuromuscular diseases.
2023
Lead investigator
Dr Béatrice Soucy
University of Calgary
Calgary, AB
Research/Clinical Sites & Affiliations
Budget: $80,000
Disorders: All Neuromuscular Disorders
Grant summary:About Dr Soucy: Dr Soucy completed her Physical Medicine and Rehabilitation residency at Université de Montréal. She has a long-standing interest in working with patients with neuromuscular diseases as well as in medical education and physician wellness. During her training in Calgary, she will develop her expertise in management of these complex populations along with her proficiency in electrodiagnostics and ultrasound. She is thankful for the fantastic opportunity to that this clinical fellowship funding will offer her. Outside of medicine, she enjoys spending time (and sharing food) with loved ones, baking, embroidery, hiking, traveling, and taking care of her plants. Dr Soucy looks forward to coming back to Montreal after her fellowship to further develop adult neuromuscular rehabilitation in her area and ensure her future patients will receive the full scope of quality care they deserve.
2023
Lead investigator
Dr Neha Patel
University of Toronto
Toronto, ON
Research/Clinical Sites & Affiliations
Budget: $80,000
Disorders: All Neuromuscular Disorders
Grant summary:About Dr. Patel: Dr. Neha Patel is in her final year of Neurology residency training at the University of Toronto. She will be starting her Neuromuscular Medicine Fellowship in July 2023 at Sunnybrook Health Sciences Centre with Dr. Lorne Zinman and Dr. Agessandro Abrahao. She has always had an avid interest in Neuromuscular Medicine and over the last 9 years has participated in clinical, basic sciences and electrophysiologic research in myasthenia gravis, Pompe Disease and amyotrophic lateral sclerosis respectively. She hopes to continue to enhance and refine her clinical approach to Neuromuscular Medicine throughout her fellowship training, and also participate in amyotrophic lateral sclerosis research, a devastating condition which currently lacks disease-modifying treatments. Outside of work she is an avid marathon runner, scuba diver and enjoys exploring new restaurants and cuisines.
2023
Lead investigator
Sean Ng, (PhD candidate)
McMaster University
Hamilton, ON
Research/Clinical Sites & Affiliations
Budget: $40,000
Disorders: Myotonic Dystrophy
Research Areas: Understand Diagnosis and Disorder Progression , Discover Novel Treatments & Therapies
Grant summary:Grant Summary: Myotonic dystrophy is a neuromuscular condition that makes muscles very weak and unhealthy. There are two types of Myotonic dystrophy, sometimes called ‘DM’-Type DM1 and Type DM2. DM1 and DM2 have similar problems – poor muscle health. Poor muscle health in this condition may be caused by poor muscle cells. Muscle cells come from special cells called ‘stem cells’. Finding out ways to improve muscle stem cell function will help improve muscle health. It has been shown that exercise can improve DM1 muscle by activating stem cells. However, the researcher does not know if these findings also apply to DM2 muscle. This work will examine the effects of the DM2 on muscle. They will test if interventions that are beneficial for DM1 muscle can be applied to DM2 muscle. They believe that this funded work will help further understand the DM2 disease and identify ways to manage DM2.
2023
Lead investigator
Dr Tyler Churchward-Venne
The Royal Institution for the Advancement of Learning/McGill University
Montreal, Quebec
Collaborators & Co-Investigators
Research/Clinical Sites & Affiliations
Budget: $100,000
Disorders: Facioscapulohumeral muscular dystrophy , Muscular Dystrophy
Research Areas: Discover Novel Treatments & Therapies
Grant summary:Food contains protein, which plays an important role in maintaining muscle size and function, and support overall health. Insufficient dietary protein intake can reduce muscle size and function, and impair health. How much protein should be eaten by people who have muscular dystrophy is not known. In this study, adults with muscular dystrophy will be asked to consume different amounts of protein, from very small to very large, in order to determine the optimal protein intake. We will also collect breath and urine samples to answer our research question. This study will allow us to determine how much protein people with muscular dystrophy need to consume to give their body what it needs. Eating enough protein may help people with muscular dystrophy better maintain the size and strength of their muscles and improve their quality of life.
2023
Lead investigator
Dr Reshma Amin
The Hospital for Sick Children
Toronto, Ontario
Collaborators & Co-Investigators
Research/Clinical Sites & Affiliations
Budget: $50,000
Disorders: All Neuromuscular Disorders (cross-cutting)
Research Areas: Enhance Care , Amplify Research & Accelerate Knowledge
Grant summary:Children with disorders that affect their muscles and nerves typically also have trouble with breathing. These disorders are called neuromuscular diseases (NMD). Some children with NMDs use machines to help with breathing and with coughing. These machines have been shown to improve quality of life and survival in these children, but may also be disruptive and hard to use. Most guidelines on the lung health of children with these disorders are based on what experts think because there is not enough research in this field. Recently, there have been new medicines for some of the NMDs. With all these changes to the care of children with NMD it is very important to prioritize the top research questions for scientists to focus on. This study will ask patients and families and clinicians about the questions they have about the lung health. The study has three phases. The first phase is a survey that collects research questions that are important. The second phase is a survey that narrows the research questions down to a short list. In the third phase, everybody comes together to decide on a list of the top ten research questions. This list will let people know about the most questions related to lung health for children with these neuromuscular disorders.
2023
Lead investigator
Dr Martine Tétreault
Centre Hospitalier de l'Université de Montréal (CHUM)
Montreal, Quebec
Collaborators & Co-Investigators
Research/Clinical Sites & Affiliations
Budget: $100,000
Disorders: Genetic myopathies
Research Areas: Understand Diagnosis and Disorder Progression
Grant summary:Genes contain all of the information necessary to produce a protein. Changes in the spelling of genes can heavily change protein functions and might cause health problems. Rare neuro/muscle disorders are caused by changes in the spelling of genes important for keeping muscles healthy. With the advance of technology, we are able to diagnosis patients by identifying differences in their genetic code. We and others have shown new variants (or genetic code differences) in the gene MLIP (Muscular LMNA-Interacting Protein), thought to be liked to muscle related disorders (myopathies). Little is known yet about MLIP’s function, except that is highly expressed within the muscle. It interacts with the lamin protein, also known to be important for heart and muscles functions. We believe the altered protein is associated with a myopathy seen in children and adult patients. MLIP has only recently been linked with myopathies. Unfortunately, we do not know enough of MLIP role. As so, we will study the effect of MLIP mutations in our laboratory. More specifically, we will reproduce genetic changes found in existing patient’s genes in a cellular model. This will allow us to see how muscles are formed, maintained and affected by MLIP. We believe the study of this mutation will greatly improve our understanding of myopathies. It will also improve patient diagnosis. It will contribute to a better understanding of the role of MLIP in certain myopathies.
2023
Lead investigator
Dr. Jeanette Erdmann
University of Lübeck
Lübeck, Germany
Research/Clinical Sites & Affiliations
Funding partners: Muscular Dystrophy Canada , Cure CMD
Budget: $80,000 USD
Disorders: Collagen 6-related dystrophy (Bethlem and Ullrich congenital muscular dystrophies)
Research Areas: Discover Novel Treatments & Therapies
Grant summary:In recent years, there has been rapid development of gene therapy tools in genetic disorders. With this project the researchers are taking the first of many steps towards establishing a potential therapy using the novel CRISPRoff technology to target dominant glycine changes causing COL6-RD.
2023
Lead investigator
Dr Simon Girard
Université du Québec à Chicoutimi
Chicoutimi, Quebec
Collaborators & Co-Investigators
Research/Clinical Sites & Affiliations
Budget: $99,600
Disorders: Myotonic Dystrophy
Research Areas: Understand Diagnosis and Disorder Progression
Grant summary:Myotonic dystrophy type 1 (DM1) is a disorder that occurs more frequently in some regions. It is caused by the expansion of a repeated genetic sequence in the DMPK gene. However, the link between this gene and the severity of the disorder is unclear. Other genetic changes such as modifier genes have been proposed to better explain the disorder. Modifier genes affect the expression of other (main) genes. Nevertheless, few human studies confirmed the presence of such genes in patients with DM1. Here we propose to look for modifier genes in DM1 patients from the Saguenay-Lac-Saint-Jean (SLSJ). The SLSJ region has the highest incidence of DM1 worldwide, with a frequency of ~1/630, due to its strong founder effect. For this study, we will join many types of data for 200 patients with DM1 from the SLSJ. Since patients with DM1 in SLSJ mostly come from only one ancestor, we expect to see shared regions around the disorder genes. Thus, we propose to apply statistical methods to identify new modifier genes linked to DM1 in these patients. This could be the first step in beginning therapies or treatments for patients with DM1. Additionally, finding modifier genes associated with earlier DM1 onset could lead to early preventive therapies. These new findings will have an impact on DM1 research, but also for many other rare neuromuscular disorders.
2023
Lead investigator
Dr Hernan Dario Gonorazky
The Hospital for Sick Children
Toronto, Ontario
Collaborators & Co-Investigators
Research/Clinical Sites & Affiliations
Budget: $100,000
Disorders: All Neuromuscular Disorders (cross-cutting)
Research Areas: Understand Diagnosis and Disorder Progression
Grant summary:Neuromuscular disorders (NMD) can be difficult diagnoses for the most skilled clinician. Multiple approaches may be needed to achieve a final accurate diagnosis. Muscle MRI is a diagnostic tool used more often. However, it requires a high degree of expertise, which limits its use only to highly specialized centers. We propose to use artificial intelligence (AI) and machine learning (ML) to create a user-friendly mobile application. It will be able to do image segmentation, scoring, and pattern recognition. It will help to understand differences between probable diagnoses and insight of genetic results. We will work with MRI databases and key AI and ML experts from the University of Toronto. Our earlier work established the use of AI using manual scoring. It allowed the diagnosis of 10 disorders using MRI. We aim to expand our current database to 7 more childhood NMDs. If successful, we will simplify the use of muscle MRI as a diagnostic tool.
2023
Lead investigator
Dr Pascal Chartrand
University of Montreal
Montreal, Quebec
Collaborators & Co-Investigators
Research/Clinical Sites & Affiliations
Budget: $100,000
Disorders: Myotonic Dystrophy
Research Areas: Discover Novel Treatments & Therapies
Grant summary:There is currently no cure for patients with myotonic dystrophy. This muscle disorder is caused by an expansion in a section of the gene – a highly repetitive sequence called CTG triplet repeats. When that happens, it can be toxic in muscles and result in defects in the alternative splicing of several transcripts. There is a great need for a drug that targets the expression of the mutant gene or its toxic product in the muscles of patients. We developed a new drug that inhibits the expression of the mutant gene. This drug corrects the mis-splicing of key transcripts in muscle cells from patients. What we want to explore in this proposal is the capacity of the drug to work in an animal model of the disorder. We will assess the activity of these drugs in a mouse model expressing a human copy of the mutant gene. We will measure how this drug reduces the expression of the toxic transcript. This project might lead to the development of new drugs for the treatment of patients with myotonic dystrophy and improve their quality of life.
2023
Lead investigator
Dr Jill Glennis Zwicker
University of British Columbia
Vancouver, British Columbia
Collaborators & Co-Investigators
Research/Clinical Sites & Affiliations
Budget: $83,166
Disorders: Spinal muscular atrophy (5q-SMN)
Research Areas: Enhance Care , Amplify Research & Accelerate Knowledge
Grant summary:Spinal muscular atrophy (SMA) causes severe weakness of all muscles. Until recently, it was one of the most common genetic causes of infant death. With new medical treatments, children with SMA now live, but with disabilities. Rehabilitation has always been important in the care of children with SMA. In the past, therapists used to give special equipment to children and families. Now that children with SMA can improve, rehabilitation can change to build skills. However, we don’t know what techniques are best, or what parents and children would like from therapy. Further, parents and children don’t always agree on what it is like to live with a disability or what is important to them. In this research, we will talk to people over Zoom, including parents, children and young adults with SMA, and therapists. To be youth friendly, we will invite everyone to use fun ways, such as making art and online drawings, to “create” a picture of what rehabilitation can look like. We will write out everything people say and look for patterns about what is important from different views. From what people say, the research team and patient partners will make a scheme that describes how to make rehabilitation plans for children with SMA. Our research will help make better rehabilitation plans for children with SMA. It may also help guide therapists when new medical treatments change what is possible for other conditions.
2023
Lead investigator
Dr Matthew Triolo
University of Ottawa
Ottawa, ON
Research/Clinical Sites & Affiliations
Budget: $40,000
Disorders: Duchenne/Becker Muscular Dystrophy
Research Areas: Understand Diagnosis and Disorder Progression , Discover Novel Treatments & Therapies
Grant summary:Grant Summary: Roughly 4 million Canadians are affected by muscular dystrophies such as Duchene Muscular Dystrophy (DMD). This disorder leads to a decline in mobility and voluntary activity. Ultimately, this results in high rates of mortality. Muscle wasting is commonly thought to be only a problem of the muscle itself. Yet, muscle stem cell (MuSC) dysfunction also plays an important role. Normally these specialized MuSC allow muscle to heal and repair itself. In patients with DMD, these cells do not work properly leading to muscle breakdown. The researchers’ recent work has shown that mitochondria are required for proper MuSC function. Unfortunately, mitochondria in MuSCs do not act well in DMD. The goal of this study is to assess whether mitochondria in MuSCs can act as a therapeutic target to treat DMD. Findings from this work will allow the researchers to target MuSCs as an intervention for DMD and other neuromuscular disorders.
2023
Lead investigator
Dr Yuguo Liu
Université de Sherbrooke
Sherbrooke, QC
Research/Clinical Sites & Affiliations
Budget: $40,000
Disorders: Duchenne/Becker Muscular Dystrophy , Collagen VI-related dystrophy (Bethlem-Ullrich) , Congenital Muscular Dystrophies , Congenital muscular dystrophy Lama2-related
Research Areas: Discover Novel Treatments & Therapies
Grant summary:Grant Summary: Muscular dystrophies (MDs) are a group of rare muscle conditions that can affect, amongst others, young children. To date, no effective treatment is available for MD. The causes of different forms of MD are highly diverse, which makes it difficult to develop treatments that can be used for all patients. In mouse models of three different types of MD (Duchenne, Collagen 6 related, and Lama2-related muscular dystrophies), the researchers discovered that the ability of muscle to repair itself is strongly reduced. They observed that, compared to healthy muscles, this is due to a lower amount of blood flow in the tissue. They next identified a drug that is able to increase the amount of blood vessels in muscles of mouse models of MD. In all three models, this treatment led to dramatically improved self-repair of muscles. Interestingly, they found that this was due to better function of muscle stem cells. Dystrophic mice treated with this drug showed many improvements, lived longer, and became 2-3 times stronger than animals that did not receive the medication. Based on their initial discovery, they now will search for drugs that are even more effective and have a stronger treatment effect. They will also try to better understand the mechanism of action that leads to the striking reduction in disease severity. The study will lay the groundwork for a much-needed novel and highly efficient drug that can be used to treat many different forms of MD.
2023
Lead investigator
Dr James Dowling
The Hospital for Sick Children
Toronto, Ontario
Research/Clinical Sites & Affiliations
Budget: $100,000
Disorders: Congenital Mopathies , Centronuclear myopathy
Research Areas: Discover Novel Treatments & Therapies
Grant summary:Centronuclear myopathy (CNM) is a common genetic form of childhood muscle disorders. Patients with CNM usually start experiencing symptoms starting from birth. The disorder can be extremely severe. It may require breathing and feeding tube support in some individuals, and can result in early death. Genetic changes in 5 different genes can cause CNM. Despite the fact that these are severe and life limiting disorders, there are no treatments. Our study will focus on one subtype of CNM caused by genetic changes in the DNM2 gene. DNM2-CNM is the second most common form of CNM. There are currently no therapies in development for DNM-CNM. We have identified several potential candidate treatments. These drugs have yet to be tested and validated in a suitable model of the disorder. The goal of this proposal is ultimately to bring treatments to patients with DNM2-CNM. We will accomplish this goal by testing promising candidate drugs in a recently developed mouse model of DNM2-CNM. Successful completion of our study will result in the first potential therapies for DNM2-CNM. The drugs we plan to test are all already Health Canada-approved. They thus hold great potential for direct translation to patients. Importantly, we have successfully used this strategy before for a different muscle disorder. This lends confidence that our approach will work for DNM2-CNM as well.
