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Lead investigator

Research Sites & Affiliations

• The Hospital for Sick Children, Toronto, Ontario

Budget: $100,000

Disorders: Congenital Mopathies ,   Centronuclear myopathy

Research Areas: Discover Novel Treatments & Therapies

Abstract: 

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.

Impact: