Therapeutic approaches in different congenital myopathies

Abstract

Congenital myopathies are rare and severe genetic diseases affecting the skeletal muscle function in children and adults. They present a variable spectrum of phenotypes and a genetic heterogeneity. Subgroups are defined according to the clinical and histopathological features and encompass core myopathy, centronuclear myopathy, nemaline myopathy and other rare congenital myopathies. No approved treatment exists to date for any congenital myopathies. To tackle this important unmet need, an increased number of proof-of-concept studies recently assessed the therapeutic potential of various strategies, either pharmacological or genetic-based, aiming at counteracting muscle weakness or/and cure the pathology. Here, we list the implicated genes and cellular pathways, and review the therapeutic approaches preclinically tested and the ongoing/completed clinical trials for the different types of congenital myopathies.