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Preclinical Assessment of Gene Editing Efficacy in Periodic Paralysis
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Periodic paralysis is a rare inherited disorder of muscle in which affected individuals have recurring transient episodes of weakness that may later progress to permanent muscle weakness. While life expectancy is normal in periodic paralysis, the transient attacks lasting hours to days severely impair quality of life and the permanent weakness may cause loss of ambulation. Interventions to reduce the frequency and severity of paralytic attacks have limited effectiveness. Avoidance of trigger factors (stress, strenuous exercise, cold environments, changes in blood potassium) helps somewhat, and medical management with carbonic anhydrase inhibitors has only modest response rates (50%) with adverse side effects such as kidney stones. Moreover, none of these interventions has been shown to reduce the risk of permanent muscle weakness. This project will develop more effective and durable treatments for periodic paralysis by using gene editing technologies that act directly on the primary cause of disease. We will establish a pre-clinical platform testing the safety and effectiveness of genetic tools (CRISPR) to either remove or to correct the mutation in our mouse models of periodic paralysis. Preliminary data show this approach reduces the susceptibility to attacks of weakness and may possibly prevent the late onset permanent weakness.
Grantee: Steve Cannon, MD, PhD
Grant type: Research Grant
Award total: $299,991.00
Institution: The Regents of the University of California, Los Angeles
Country: United States