Therapies for RYR1-Related Myopathies: Where We Stand and the Perspec-tives

RyR1-related myopathies are a family of genetic neuromuscular diseases due to mutations in the RYR1 gene. No treatment exists for any of these myopathies today, which could change in the coming years with the growing number of studies dedicated to the pre-clinical assessment of various approaches, from phar-macological to gene therapy strategies, using the numerous models developed up to now. In addition, the first clinical trials for these rare diseases have just been completed or are being launched. We review the most recent results obtained for the treatment of RyR1-related myopathies, and, in view of the progress in therapeutic devel-opment for other myopathies, we discuss the possible future therapeutic perspectives for RyR1-related myo-pathies.

Automated summary

RyR1-related myopathies are genetic neuromuscular diseases caused by mutations in the RYR1 gene, with no current treatment options. However, with the increasing number of preclinical assessments and clinical trials, there is hope for future therapeutic perspectives.