A brief review of recent Charcot-Marie-Tooth research and priorities

  • Sean Ekins, Nadia K. Litterman, Renée J.G. Arnold, Robert W. Burgess, Joel S. Freundlich, Steven J. Gray, Joseph J. Higgins, Brett Langley, Dianna E. Willis, Lucia Notterpek, David Pleasure, Michael W. Sereda, Allison Moore
  • F1000Research, February 2015, Faculty of 1000, Ltd.
  • DOI: 10.12688/f1000research.6160.1

A review of Charcot-Marie-Tooth research

What is it about?

In late 2014 the Hereditary Neuropathy Foundation Scientific Advisory Board met to discuss progress in CMT research and identify gaps. This review was written by the board and analyses their and others recent research. Our goal was to inform the community about ongoing research and to try to avoid overlap. We also highlighted research priorities.

Why is it important?

CMT is one of the more common rare diseases and still there is no FDA approved treatment for it. Recently a combination therapy has completed phase 2 clinical trials. In addition we know more now about the various mutations in the diseases as well as have the ability to diagnose it. We summarize all the recent small molecules that have been identified in in vitro assays.

Perspectives

Dr Sean Ekins
Collaborations in Chemistry

Being able to put together a list of short and long term priorities for CMT research is important and I am no aware of other reviews on CMT trying to do the same. Our focus is drug discovery and translation so is also important to be realistic.

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http://dx.doi.org/10.12688/f1000research.6160.1

The following have contributed to this page: Dr Sean Ekins and Dr Nadia Litterman