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:
2024
Lead investigator
Dr Krista Best
Laval University
Quebec City , Quebec
Collaborators & Co-Investigators
Research/Clinical Sites & Affiliations
Budget: $100,000
Disorders: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay , Friedreich ataxia
Research Areas: Advance Treatment and Care
Grant summary:Wheelchairs are often provided to people with Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and myotonic dystrophy type 1 (DM1) when they are not able to walk anymore. However, giving someone a wheelchair alone does not guarantee they will use it safely or properly. Many people who use wheelchairs need help from others to get around and they can not always do the things they like to do. This can lead to isolation, stress, and reduced quality of life. In addition, poor use of a wheelchair could lead to accidents and injuries. Previous research has recently showed that people with ARSACS have lower wheelchair skills than other adults who use wheelchairs, and that teaching wheelchair skills to people with ARSACS seems to work. This study will test the program with more people with ARSACS and DM1 to see how it can improve wheelchair mobility and confidence. This study will also examine people’s expectations and experiences with wheelchair training. People who take part in this research will answer questions before and after wheelchair training, and follow-up 3 months later to explain their wheelchair use. The results of this study may improve how therapists provide training for wheelchair use, which may improve mobility, participation, and quality of life for people with ARSACS and DM1. Learning just one wheelchair skill could be life-changing. It could mean the difference between leaving the house or not, which could impact the ability to shop for groceries, see friends, or to have a job.
2024
Lead investigator
Dr Nathalie Bier
University of Montreal
Montreal, Quebec
Collaborators & Co-Investigators
Research/Clinical Sites & Affiliations
Budget: $98,697.85
Disorders: Myotonic Dystrophy
Research Areas: Amplify Research & Accelerate Knowledge , Advance Treatment and Care
Grant summary:Myotonic dystrophy type 1 (DM1) is a rare health condition that affects muscles and other body systems. It is more common in the province of Quebec. This condition can make muscles weaker over time, and it can be though for people with DM1 to do daily activities, like cooking or managing money. When discussing DM1, muscles are usually the main focus but there are also “invisible” problems, like forgetfulness and not feeling motivated, also known as cognitive problems. There is limited research on how these cognitive problems affect the lives of people with DM1, their families, and healthcare providers. This project aims to understand how cognitive problems impact daily life by using different research approaches like observing how people with DM1 do everyday tasks, completing interviews with participants, their caregivers and healthcare providers. Through these research approaches, the results of this study will identify the most important cognitive problems and how they impact certain activities. The results of this study has the potential to improve services and guide future treatments for cognitive problems among people diagnosed with DM1.
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 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 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.
2022
Lead investigator
Dr. Bernard Jasmin
University of Ottawa
Ottawa, Ontario
Collaborators & Co-Investigators
Research/Clinical Sites & Affiliations
Budget: $100,000
Disorders: Myotonic Dystrophy
Research Areas: Understand Diagnosis and Disorder Progression , Discover Novel Treatments & Therapies
Grant summary:Myotonic Dystrophy type 1 (DM1) is a disorder affecting many organs of the body. There is currently no cure or effective treatment for the disorder. In DM1, muscles are weaker, painful and have difficulties to relax. On the molecular level multiple signaling pathways have been reported to be altered including the AMPK signaling, which is important for energy in cells. In our recent work, we found that in cell models of DM1, AMPK signaling is repressed and when it is stimulated, it improves the pathology of these cells. AMPK can be stimulated pharmacologically and physiological (i.e. through exercise.) However, it remains unknown if there is any therapeutic benefit for persons living with DM1.
In this study, we therefore propose to take our findings from cell models to further investigate the role of AMPK in persons living with DM1 and test whether endurance training has the same beneficial effects on AMPK signaling. In addition, while exercise has been shown to be beneficial for DM1 mouse models and for DM1 patients, the impact of training programs on the disorder has not been assessed.
This study will help us better understanding myotonic dystrophy, the role of exercise in muscle health and shed light on potential targets that can be developed as novel therapies for DM1.
2021
Lead investigator
Dr. Mohamed Chahine
Université Laval
Quebec City, Quebec
Collaborators & Co-Investigators
Research/Clinical Sites & Affiliations
Budget: $59,987.20
Disorders: Myotonic Dystrophy
Research Areas: Understand Diagnosis and Disorder Progression
Grant summary:Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy found in adults and currently there is no cure for this disease. DM1 is a multisystemic disease that affects several tissues including skeletal muscles, heart and brain. There are two major clinical manifestations of DM1: the classical adult form and congenital/childhood form. While the causes for skeletal muscle abnormalities in adulthood DM1 are established, the mechanisms responsible for the brain aspects of the congenital/childhood forms of DM1 remain largely unknown. The congenital form of DM1 is maternally transmitted and is characterized by reduced fetal movements, severe hypotonia and weakness at birth, often-respiratory insufficiency, feeding difficulties and talipes. Recent advances in stem cell technology now, will allow establishing stem cell lines from patients with adult and CDM1/childhood forms of the disease with the possibility to guide the differentiation of these stem cells into brain cells. Using the latest technology in disease modeling using 2 and 3D neuronal cultures), will speed up new discoveries on how we can reverse brain abnormalities in these patients.
Impact: Understanding the DM1 disease mechanism will help neurologists and other healthcare providers to improve the current diagnosis, monitor the disease progression and eventually improve treatment.
2021
Lead investigator
Dr. Nicolas Dumont
Hospitalier Universitaire Sainte-Justine
Montreal, Quebec
Collaborators & Co-Investigators
Research/Clinical Sites & Affiliations
Budget: $60,000
Disorders: Myotonic Dystrophy
Research Areas: Discover Novel Treatments & Therapies
Grant summary:Myotonic dystrophy type 1 is one of the most frequent genetic muscle diseases in humans. The disease is characterized by muscle weakness and atrophy. Moreover, the regenerative capacity of muscle stem cells, the engine of muscle repair, is reduced in the disease. Therefore, there is a high therapeutic potential for strategies targeting muscle stem cells in myotonic dystrophy type 1; however, this avenue remains unexplored. Our goal is to investigate a new therapeutic strategy aiming to target defective muscle stem cells and restore their regenerative potential. To do so, we will use a preclinical animal model of myotonic dystrophy type 1 to validate the efficacy of these novel therapeutic molecules on muscle regeneration and physical function. Improving muscle regeneration could help to mitigate disease progression and improve the quality of life of the patients. Overall, this project will explore a novel therapeutic avenue for patients that currently have limited therapeutic options.
2020
Lead investigator
Dr. Benjamin Gallais
Cégep de Jonquière
Jonquière, Quebec
Collaborators & Co-Investigators
Research/Clinical Sites & Affiliations
Budget: $47,600
Disorders: Myotonic Dystrophy
Research Areas: Enhance Care
Grant summary:Myotonic dystrophy type 1 (DM1) amongst others includes symptoms like excessive fatigue and sleepiness, lack of motivation, peculiar personality traits and cognitive deficits including organization, decision-making, and interpersonal difficulties. All these features greatly affect an individual’s daily living autonomy, health management as well as individuals’ and caregivers’ social participation. Furthermore, misunderstanding of these unapparent symptoms often bring family and social conflicts. Briefly, most DM-patients and caregivers highlight these neurobehavioral symptoms than the muscular symptoms that are the hallmark of the condition. This project aims to develop and transfer information and practical advices into numeric educational materials to support caregivers regarding neurobehavioral symptoms of DM1. These products would take the form of guides, video capsules and cartoons. The innovative aspect of this project lies on the fact that products will be based on challenging day-to-day life situations experienced by patients and caregivers called “partners”, as they are part of the research team in all study steps. A better understanding/management of neurobehavioral symptoms through personalized multimedia products using patients and caregivers’ experience may improve the patient-caregiver relationship, provide a greater and longer patients’ autonomy, and increase social participation.
2020
Lead investigator
Dr. Luc Hébert
Université Laval
Quebec City, Quebec
Collaborators & Co-Investigators
Research/Clinical Sites & Affiliations
Budget: $97,406.67
Disorders: All Neuromuscular Disorders
Research Areas: Enhance Care
Grant summary:Maximal muscle strength (MMS) is a key measure of how well a person’s muscles are working People affected by neuromuscular disorders have weaken muscle strength amongst others. Moreover, in some types of NMDs like myotonic dystrophy type 1 we have shown that strength training leads to lasting improvements in muscle strength (Roussel 2019). In order to be able to know if a person’s maximal muscle strength is “normal” we need a comparison or reference chart of what would be expected of a healthy individuals of similar age, sex, weight and height. This chart will be necessary to identify muscle weakness in order to accurately measure changes overtime and treatment efficacy. To develop this chart this research team will use standardized protocols using high quality, accessible and user-friendly handheld dynamometers (HHD) which can measure in clinic , rapid, accurate, valid, reliable and sensitive MMS value of 300 healthy participants (30 men/30 women in each decade from 18 to 69) using a standardized HHD protocol In addition to provide descriptive statistics of MMSs, predictive equation models will be established from data collected, which will allow clinicians to compare MMS measured to the expected MMS values for the same age and sex.
Such reference values will allow documenting muscle strength changes, assessing intervention effectiveness and guide prognosis in order to optimize healthcare for people living with NMD.
2020
Lead investigator
Dr. Vladimir Ljubicic
McMaster University
Hamilton, Ontario
Budget: $100,000
Disorders: Duchenne/Becker Muscular Dystrophy , Myotonic Dystrophy
Research Areas: Discover Novel Treatments & Therapies
Grant summary:A critical, unmet clinical need is the identification of effective therapies for Duchenne muscular dystrophy (DMD) and myotonic dystrophy type 1 (DM1). When a protein in our muscles called AMP-activated protein kinase (AMPK) is turned on, it reduces disease severity in mice with DMD and DM1. However, AMPK-activating drugs in previous muscular dystrophy studies are neither safe for long-term human use, nor particularly potent. The use of better compounds to activate AMPK, those that are safe, effective, and able to be taken orally, would greatly increase their clinical impact for DMD and DM1 patients. Here, we will employ a new strategy to target AMPK for the treatment of muscular dystrophy. Specifically, we will investigate whether stimulation of AMPK with a practical, next-generation compound improves the health of mice with DMD and DM1, which would provide a better outlook for applicability in muscular dystrophy patients. We will focus on the ability of the AMPK-activating drug to restore the proper structure and function of dystrophic muscles, as well as explore the molecular mechanisms of its action. There is no better time than the present to perform this study since this drug is in clinical trials for treating diabetes. This proposal will determine the therapeutic potential of a novel AMPK-stimulating compound for the most prevalent muscular dystrophies in children and adults in Canada.
