4.5 Review

Early clinical and pre-clinical therapy development in Nemaline myopathy

期刊

EXPERT OPINION ON THERAPEUTIC TARGETS
卷 26, 期 10, 页码 853-867

出版社

TAYLOR & FRANCIS LTD
DOI: 10.1080/14728222.2022.2157258

关键词

Congenital myopathy; NEB; ACTA1; gene therapy; exon skipping; myostatin; fast troponin activators; pyridostigmine

向作者/读者索取更多资源

The article explores experimental treatments for nemaline myopathies, identifying at least eleven mainly pre-clinical approaches using murine and/or human muscle cells. These approaches target various aspects including the causative gene, pathophysiologically relevant mechanisms, myogenesis, and other therapies to improve muscle function. The wide range of experimental therapies shows promise for the treatment of nemaline myopathies, but challenges in clinical translation still exist.
IntroductionNemaline myopathies (NM) represent a group of clinically and genetically heterogeneous congenital muscle disorders with the common denominator of nemaline rods on muscle biopsy. NEB and ACTA1 are the most common causative genes. Currently, available treatments are supportive.Areas coveredWe explored experimental treatments for NM, identifying at least eleven mainly pre-clinical approaches utilizing murine and/or human muscle cells. These approaches target either i) the causative gene or associated genes implicated in the same pathway; ii) pathophysiologically relevant biochemical mechanisms such as calcium/myosin regulation of muscle contraction; iii) myogenesis; iv) other therapies that improve or optimize muscle function more generally; v) and/or combinations of the above. The scope and efficiency of these attempts is diverse, ranging from gene-specific effects to those widely applicable to all NM-associated genes.Expert OpinionThe 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 remodeling. Challenges in clinical translation include the rarity and heterogeneity of genotypes, phenotypes, and disease trajectories, as well as the lack of longitudinal natural history data and validated outcomes and biomarkers.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.5
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

暂无数据
暂无数据