Charcot-Marie-Tooth disease Type 1A

Charcot-Marie-Tooth disease (CMT) is the commonest inherited neuropathy. The most common form of CMT is type 1A due to a duplication of a 1.5 Mb portion of chromosome 17 containing the peripheral myelin protein 22 gene (PMP-22). A recent study has shown that ascorbic acid has been beneficial in the treatment of a mouse model of this disease. The purpose of this workshop was to explore the possibility of a trial of ascorbic acid in CMT1A patients.

The workshop had participants from all over Europe, the US and Canada as well as two patient representatives from the UK and Italy. The workshop strongly supported a trial of ascorbic acid in CMT1A and agreed that a new scale devised specifically for CMT1A, the Charcot-Marie-Tooth Neuropathy Score (CMTNS) should be used as a primary outcome in any trial. Various secondary outcomes were also agreed with flexibility for individual groups to investigate additional outcome measures. A core set of criteria were agreed as a protocol for a trial, including details of dosage, monitoring etc.

The workshop participants recognised that although some centres were already initiating trials that an international collaboration would be the ideal way for a trial to be performed, especially to optimise recruitment allowing the trial to be timely.

Finally, there was strong support for an international CMT trial network to plan and perform future trials.

Chairs: Prof. P. de Jonghe (Belgium), Dr. D. Pareyson (Italy) Dr. M. Reilly (United Kingdom)

Participants: Dr. M. Auer-Grumbach (Austria), Dr. J. Berciano (Spain), Dr. J. Blake (United Kingdom), Prof. O. Blin (France), Ms. K. Butcher (United Kingdom), Ms. A. Detomas (Italy), Dr. O. Dubourg (France), Prof. H. Ehrenreich (Germany), Prof. M. Fontes (France), Prof. A. Hahn (Canada), Prof. R. Hughes (United Kingdom), Dr. R. Lewis (U.S.A.), Dr. R. Mazanec (Czech Republic), Dr. K. A. Nave (Germany), Dr. V. Planté Bordeneuve (France), Dr. A. Schenone (Italy), Dr. A. Solari (Italy), Dr. F. Visioli (Italy), Prof. M. de Visser (The Netherlands), Dr. P. Young (Germany)

A full report of this meeting is published in Neuro Muscular Diseases.(pdf)