Key result
A review of recent pre-clinical and clinical developments highlights emerging pharmacological and gene therapy strategies for RyR1-related myopathies, for which no approved treatments currently exist.
Why the study?
No treatment currently exists for RyR1-related myopathies, though preclinical assessments of pharmacological and gene therapies are growing and early clinical trials are underway.
This review highlights the current state and future perspectives of pharmacological and gene therapies for RyR1-related myopathies, for which no approved treatments currently exist.
First trials signal potential therapies for untreatable RyR1 myopathies; leaves open efficacy and safety pending larger studies.
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 pharmacological 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 development for other myopathies, we discuss the possible future therapeutic perspectives for RyR1-related myopathies.
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Beaufils et al. (2021) conducted a review in RyR1-related myopathies. Pharmacological and gene therapies was evaluated. A review of recent pre-clinical and clinical developments highlights emerging pharmacological and gene therapy strategies for RyR1-related myopathies, for which no approved treatments currently exist.
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