Pre-clinical studies in animal models of Charcot-Marie-Tooth

The 183^th ENMC workshop organized from 29 April-1 May 2011 in The Netherlands was the first ENMC workshop on pre-clinical studies in animal models of Charcot-Marie-Tooth. Twenty-five participants from 7 countries (; United Kingdom; France; Germany; Italy; Switzerland, U.S.A. and The Netherlands) attended this ENMC workshop on Outcome Measures in rodent models of CMT. Participants included adult neurologists, biologists, and molecular geneticists.

The ENMC workshop on outcome measures and clinical trials in CMT was very successful.
The main aims of the workshop were:

1. To improve and standardize outcome measures used for preclinical trials of mouse and rat models for CMT
2. To generate a CMTNS for mice and rats
3. To catalogue mouse and rat models for various forms of CMT
4. To determine methods to investigate the role of genetic background in preclinical trials for CMT
5. To identify guidelines on the features of animal models that make them appropriate for particular preclinical studies
6. To formalize an international CMT animal model consortium to drive all of these aims forward

Achievements.
1)     During the workshop we worked on how to design potential outcome measures in rodents and determine which of these were subject to change over time. At this point combining these into a modified version of the CMT Neuropathy Score (CMTNS) or evaluation tool for animals is being considered. A working group to address these issues has been created.

2)     The group agreed to formalize as a CMT animal model consortium to carry forward the aims of the meeting
3)     An animal registry will be created and maintained
4)     Suggestions of ideal transgene design for animal disease models of CMT were proposed
5)     Suggestions on ideal standardized approaches for neurophysiological evaluation of CMT animal models were agreed upon and novel EPS approaches to be evaluated in the future were discussed
6)     Suggestions on specific nerves to analyze in CMT models were made as well as specific procedures to analyze the nerves.

An approach to preclinical trial design was presented and discussed

A full report will be published in Neuromuscular Disorders.