Review
Version 1
Preserved in Portico This version is not peer-reviewed
The Current State of Charcot–Marie–Tooth Disease Treatment
Version 1
: Received: 29 May 2023 / Approved: 13 June 2023 / Online: 13 June 2023 (07:20:15 CEST)
A peer-reviewed article of this Preprint also exists.
Okamoto, Y.; Takashima, H. The Current State of Charcot–Marie–Tooth Disease Treatment. Genes 2023, 14, 1391. Okamoto, Y.; Takashima, H. The Current State of Charcot–Marie–Tooth Disease Treatment. Genes 2023, 14, 1391.
Abstract
Charcot–Marie–Tooth disease (CMT) and associated neuropathies constitute the most predominant genetically transmitted neuromuscular conditions; however, effective pharmacological treatments remain elusive. The extensive genetic heterogeneity of CMT, which impacts the peripheral nerves and results in a lifelong disability, presents a significant barrier to the development of comprehensive treatments. An estimated 100 loci within the human genome are linked to various forms of CMT and its related inherited neuropathies. This review delves into prospective therapeutic strategies used for the most frequently encountered CMT variants, namely CMT1A, CMT1B, CMTX1, and CMT2A. Compounds such as PXT3003, which are currently under clinical and preclinical investigation, and a broad array of therapeutic agents and their corresponding mechanisms have been discussed in this review. Furthermore, the progress in established gene therapy techniques, including gene replacement via viral vectors, exon skipping using antisense oligonucleotides, splicing modification, and gene knockdown, has been appraised. Each of these gene therapies has the potential for substantial advancements in future research.
Keywords
Charcot–Marie–Tooth disease; PXT3003; gene therapy
Subject
Medicine and Pharmacology, Neuroscience and Neurology
Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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