Společnost C-M-T

Report from 136. Conference of European neuromuscular association 8. - 10. April 2005, Naarden, the Netherlands. Topic: Treatment of most often hereditary neuropathy CMT 1A by ascorb acid (vitamin C).

The meeting of world experts for CMT illness from Europe, USA and Canada took part in dutch Naarden. The experts met with the aim to create an united record of CMT patients for testing some interesting treatment molecules. The reason for the meeting was a new revelation obtained on experimental models (CMT mouses), which show a very good effect on animal´s mobility while longer time lasting serving of ascorb acid (vitamin C). Experiment concerned only most often form of CMT which is caused by duplication of gene for PMP 22.

4 parts of the conference:
1. important experimental works
2. clinical symptoms of the illness and its right evaluation
3. electrophysiological testing of CMT patients
4. creating of united record

Experts who informed about the results of watching the influence of ascorb acid performed first. Prof. Michel Fontes from Marseille explained experiment on CMT 1A mouses in details. Two groups of mouses were watched (with and without ascorb acid) for 90 days. A much better mobility and muscle strenght were seen in the group CMT 1A mouses to which ascorb acid was served. Application of acid was started by 4 week old mouses and different results between both groups were statistically important. Moleculary biological aspects of ascorb acid influence on peripheral nerve were discussed (Dr. Nave, Gottingen, Germany) and influence of ascorb acid on human organism (Dr. Visioli, Milano, Italy).

Formation of renal stones and diarrhoea were pointed out as a possible undesirable effect of ascorb acid. Surprisingly, optimal dose of ascorb acid for human organism isn´t known, but it is not recommended to use more than 3g daily. Prof. Lewis (Detroit, USA), who concerned in natural development of CMT illness (progress of weakness and insensitiveness of limbs during life) performed a very interesting record. Till this time used scales for nerve´s damage are not mostly reliable and sensitive enough.

He recommended to use scale for CMT neuropathy (CMTNS) which they have very good experiences with and they issued an article on this topic in american Neurology in April 2005. Dr. Berciano (Sentander, Spain) who concerned in development of foot deformation by CMT 1A by children, also took part. He presented results of magnetical resonance of foot muscles and EMG investigation. He pointed out dependence of foot deformation on the lenght of nerve fibres and as a reason of rise of foot deformation he marked frequent atrophy of foot muscles not shin muscles.

Electrophysiological investigation by CMT illness was a matter of discussion of all presented electrophysiologists. Our recommendation of evaluation of nerves only by non dominant upper limb (Dr. Mazanec) was finally accepted. Interval for investigation was set for half a year.

Afterwards the main organizers of conference (prof. Hughes and Dr. Reilly from London, prof. Pareyson from Milan) came out with the basic idea of international project CMT 1A patients by ascorb acid use. According to their suggestion the project should last three years. Watching should be separated for adult and children CMT patients. Dose of ascorb acid should be maximally 3g daily. As a main aim of watching was set a change of CMTNS score by 1 point (prof. Lewis recommended), improvement muscle strenght by dorsal foot flexis (prof. Pareyson) and improvement of electrophysiological parametres (Dr. Young and prof. De Visser).

All participants introduced their national CMT records. For now the first are colleguages from France (Dr. Dubourh from Salpetriére in Paris) whose record is finnished already and they start to treat patients from May 2005. Their record differes in many aspects from records of other countries. The Netherlands and Germany are going to concentrate on children CMT patients only. Italy supposes to watch app. 200 and USA app. 360 adult patients. I introduced my idea of project for adult patients (app. 80 people) and children patients (app. 20 children) for Czech Republic. Patients will be watched for 3 years in 3-5 centres in Czech Republic. The main aim is to improve score of CMTNS scale by 1 point, improvement of strenght of isometric contraction by dorsal foot flexis and improvement of SNAP and CMAP n. ulnaris.

Surprisingly, financing of the records is a matter of each country. There´s no common EU grant. Particular national records are self-contained and they should only by united in the basic results in order to the final results from different countries could be compared.

The conference was finnished by a discussion of common basic results of records. National records will differ in many details and it´s neccessary to specify next development of the studies through e-mail correspondence. Conference Peripheral Nerve Society (PNS) in Italy in July this year was set as a next possibility for consultation. What does it mean for us?

The basic fact is that no one forces us to participate on the international project of treatment CMT 1A by ascorb acid (vitamin C). It depends on us how our record will correspondent with other national records. Also it´s only on us how we will ensure finances for this study.

After a meeting in hospital Motol in April 2005 it seems to be real:
1. request of 3 year grant IZA MT ČR in autumn 2005
2. partnership of a sponsor (pharmaceutical company?)
3. cooperation with CMT association
4. research plans of FN Motol

This article in bulletin is the first step to inform you, all members of CMT association about this project. We would like to send a personal letter to you, whom this project concern. This letter would explain all details of project and would request you to explain your possible interest in this project. Also, we would contact by phone or a letter doctors who would be interested in cooperation with us. I hope, together we will find a way how to realize this study because non-participation in this study would be a step back and it would mean a loss of international prestige, which we all have been hardly gaining during last 5 years.