Drug repurposing in skeletal muscle ion channelopathies |
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Affiliation: | 1. Illawarra Health and Medical Research Institute, Wollongong, NSW, 2522, Australia;2. Molecular Horizons and School of Chemistry and Molecular Bioscience, University of Wollongong, Wollongong, NSW, 2522, Australia;1. Medical Oncology Unit, Ospedale del Mare, 80147 Napoli, Italy;2. Surgical Unit, Ospedale del Mare, 80147 Napoli, Italy;3. Department of Radiology, Ospedale del Mare, 80147 Naples, Italy;4. Department of Hematology and Oncology, Comprehensive Cancer Center Innsbruck, Medical University of Innsbruck, Innsbruck, Austria;1. Consultant Clinical Oncologist, The Royal Marsden NHS Foundation Trust, London, UK;2. Consultant Medical Oncologist, The Royal Marsden Hospital NHS Foundation Trust, London, UK |
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Abstract: | Skeletal muscle ion channelopathies are rare genetic diseases mainly characterized by myotonia (muscle stiffness) or periodic paralysis (muscle weakness). Here, we reviewed the available therapeutic options in non-dystrophic myotonias (NDM) and periodic paralyses (PP), which consists essentially in drug repositioning to address stiffness or weakness attacks. Empirical use followed by successful randomized clinical trials eventually led to the orphan drug designation and marketing authorization granting of mexiletine for NDM and dichlorphenamide for PP. Yet, these treatments neither consider the genetic cause of the diseases nor address the individual variability in drug response. Thus, ongoing research aims at the identification of repurposed drugs alternative to mexiletine and dichlorphenamide to allow personalization of treatment. This review highlights how drug repurposing may represent an efficient strategy in rare diseases, allowing reduction of drug development time and costs in a context in which the return on investment may be particularly challenging. |
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Keywords: | NDM" },{" #name" :" keyword" ," $" :{" id" :" pc_jDfuU3p7PF" }," $$" :[{" #name" :" text" ," _" :" non-dystrophic myotonia MC" },{" #name" :" keyword" ," $" :{" id" :" pc_85NQg5zpYi" }," $$" :[{" #name" :" text" ," _" :" myotonia congenita PMC" },{" #name" :" keyword" ," $" :{" id" :" pc_19VH7geec7" }," $$" :[{" #name" :" text" ," _" :" paramyotonia congenita SCM" },{" #name" :" keyword" ," $" :{" id" :" pc_tgZLse4Wj8" }," $$" :[{" #name" :" text" ," _" :" sodium channel myotonia RCT" },{" #name" :" keyword" ," $" :{" id" :" pc_Sb8xI0GDuj" }," $$" :[{" #name" :" text" ," _" :" randomized clinical trial PP" },{" #name" :" keyword" ," $" :{" id" :" pc_oJLEQRwt2l" }," $$" :[{" #name" :" text" ," _" :" periodic paralysis hyperPP" },{" #name" :" keyword" ," $" :{" id" :" pc_xQjQR8WEuy" }," $$" :[{" #name" :" text" ," _" :" hyperkalemic periodic paralysis hypoPP" },{" #name" :" keyword" ," $" :{" id" :" pc_NPVxw8p0Kv" }," $$" :[{" #name" :" text" ," _" :" hypokalemic periodic paralusis ATS" },{" #name" :" keyword" ," $" :{" id" :" pc_PdNCrJEO0V" }," $$" :[{" #name" :" text" ," _" :" Andersen-Tawil syndrome CAI" },{" #name" :" keyword" ," $" :{" id" :" pc_KwbVEoH7wy" }," $$" :[{" #name" :" text" ," _" :" carbonic anhydrase inhibitors EMA" },{" #name" :" keyword" ," $" :{" id" :" pc_PlpNAUtbEV" }," $$" :[{" #name" :" text" ," _" :" European Medicines Agency FDA" },{" #name" :" keyword" ," $" :{" id" :" pc_nMvKv2HmtU" }," $$" :[{" #name" :" text" ," _" :" Food and Drug Administration |
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