Abstract
Charcot–Marie–Tooth disease (CMT) is the most frequent hereditary peripheral neuropathies. It is subdivided in two main groups, demyelinating (CMT1) and axonal (CMT2). CMT1 forms are the most frequent. The goal of this review is to present published data on 1—cellular and animal models having opened new potential therapeutic approaches. 2—exploration of these tracks, including clinical trials. The first conclusion is the great increase of publications on CMT1 subtypes since 2000. We discussed two points that should be considered in the therapeutic development toward a regulatory-approved therapy to be proposed to patients. The first point concerns long term safety if treatments will be a long-term process. The second point relates to the evaluation of treatment efficiency. Degradation of CMT clinical phenotype is not linear and progressive.
Highlights
Among hereditary peripheral neuropathies, the most frequent is Charcot–Marie–Tooth disease (CMT)
CMT1A disease is caused by overexpression of peripheral myelin protein-22 (PMP22) gene
While in models for CMT1A, macrophages were identified as the only inflammation related disease modulators, disease outcome in models for CMT1B and CMTX1 is influenced by components of both the innate and the adaptive immune system
Summary
The natural history of these varffus forms of CMT remains poorly understood, at least in part, because these are rare disorders and individual centers do not follow enough patients to perform natural history studies. Validated clinical instruments for measuring disease severity have become available only recently and have not yet been employed in many of the rare CMT subtypes. The Inherited Neuropathies Consortium (INC) is a member of the Rare Diseases Clinical. Quantifiable clinical data add to the literature in providing the clinical severity of a variety of CMT subtypes and act as a baseline for a longitudinal natural history study of CMT subtypes, a prerequisite for clinical trials. From a recent study of the consortium published in 2015, the frequency of different. This review will only focus on CMT type 1 representing more than 80% of CMT disease and the mainly explored subtype. We will describe preclinical and clinical trials performed in different CMT1 subtypes
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