Our Focus on Muscular Dystrophies
Edgewise is currently focused on developing novel muscle-targeted therapies for the treatment of Duchenne, Becker, Limb-Girdle muscular dystrophies, and McArdle disease.
Duchenne Muscular Dystrophy
Duchenne is a severe, degenerative muscle disorder with a median life expectancy of around 30 years old. People living with Duchenne begin to lose their ability to walk without assistance by their early teens and nearly all will require the use of a wheelchair by the time they are in their mid-teens. Duchenne is the most common type of muscular dystrophy, and genetic mutations in the dystrophin gene result in contraction-induced muscle damage, which is the primary driver of irreversible muscle loss and impaired motor function. Currently there is no cure for Duchenne; early, active multidisciplinary care from neuromuscular specialists, cardiologists, physical therapists, and other specialists is critical for optimized disease management. Dystrophin-targeted therapeutic options for Duchenne are inadequate to prevent significant morbidity and mortality; novel therapies in development for Duchenne, including muscle targeted interventions, aim to positively impact disease trajectory.
Becker Muscular Dystrophy
Becker is a genetic, progressive neuro- muscular disorder that imposes significant physical, emotional, financial and social impacts predominantly on males and their caregivers. Genetic mutations in the dystrophin gene resulting in Becker lead to contraction-induced muscle damage, which is the primary driver of muscle loss and impaired motor function in muscular dystrophies. Functional decline can begin at any age, and once that muscle loss begins, the decline in function is irreversible and continuous. Some experience heart failure from cardiomyopathy, which may result in heart transplantation or early death. Currently there is no cure for Becker; early and long-term multidisciplinary care from neuromuscular specialists, cardiologists, physical therapists and other specialists is critical for optimized disease management. Novel therapies are in development, including muscle targeted interventions, aimed at positively impacting disease trajectory.
Limb Girdle Muscular Dystrophies
Edgewise is also developing therapies for additional muscle disorders that include slower-onset forms of inherited muscle disorders such as Limb Girdle Muscular Dystrophies (LGMD) and movement disorders that include spasticity and contractures resulting from multiple sclerosis, spinal cord injury or stroke. Collectively, LGMDs are the fourth most common genetic cause of muscle weakness. The approximate global prevalence of LGMDs as a group is estimated to be from 0.56–5.75 per 100,000 live births. Males and females are affected in equal numbers. The age of onset is variable and may occur in childhood, adolescence, young adulthood, or even later. LGMD does not typically shorten lifespan, however, severe complications can arise in individuals who have heart muscle or respiratory system involvement.
McArdle Disease
McArdle disease (also known as Glycogen storage disease type V or GSDV) is a rare metabolic myopathy disorder, caused by a deficiency of myophosphorylase, the specific skeletal muscle enzyme that initiates glycogen breakdown. This deficiency causes muscle fatigue, cramping, and pain during everyday activities and exercise. If activity is prolonged, muscle damage ensues, which can lead to muscle breakdown and possible kidney damage. Estimates suggest that McArdle disease affects about 1 person in every 100,000. However, it is thought that only about one third of individuals with the condition have been diagnosed. The features of this condition typically begin in a person's teens or twenties, but they can appear anytime from infancy to adulthood. There are currently no approved therapies for the treatment of McArdle disease.