Early clinical and pre-clinical therapy development in Nemaline Myopathy.

: The wide range of experimental therapies currently under consideration for NM is promising. Potential translation into clinical use requires consideration of additional factors such as the potential muscle type specificity as well as the possibility of gene expression remodelling. Challenges to clinical translation include the rarity and heterogeneity of genotypes, phenotypes and disease trajectories, as well as lack of longitudinal natural history data and validated outcomes and biomarkers.