Charcot Marie Tooth disease (CMT) is the most important inherited peripheral neuropathy. As with most genetic diseases, there is no cure for CMT. The best neurologists can offer at the moment is supportive treatment for complications of CMT such as foot drop and foot deformities.

 

Neurologists are however very keen to go beyond platitudes and ankle supports for their patients with CMT. The holy grail of course is gene therapy, but this is still a far-off dream. As neurologists labour towards this utopia, they are also looking down to earth at drug treatments.

Prompted by reports that Vitamin C, yes Vitamin C,  effectively prevented neuropathy in mice, neurologists carried out a major trial in people with CMT. This was reported in Lancet Neurology titled Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. Alas, Vitamin C was way off the mark in CMT.

Not deterred, the indefatigable neurologists have turned their sights on another agent. Perhaps because Vitamin C is too common, they went for something more exotic this time- inhibition of colony stimulating factor 1 (CSF1). The reason for picking on CSF1 is the observation that CMT is characterised by a low level inflammatory process, and CSF1 promotes inflammation by stimulating the production of the inflammatory cells called macrophages. The plan therefore is to wipe out macrophages by cutting their supply line, CSF 1. And the military-style strategy went according to plan.

The study, reported in the journal Brain, is titled Targeting the colony stimulating factor 1 receptor alleviates two forms of Charcot-Marie-Tooth disease in mice. The researchers fed an inhibitor of CSF 1 to mice models of CMT. Following the successful outcome, they proudly announced that “an orally administered inhibitor of CSF1R may offer a highly efficacious and safe treatment option for at least two distinct forms of the presently non-treatable Charcot-Marie-Tooth type 1 neuropathies“. Two for the price of one! Next stop, human trials-the waterloo of many a researcher!

 

Do you want to explore the genetic neuropathies a bit more? You couldn’t do better than this excellent review in Practical Neurology by Alexander Rossor, Matthew Evans, and Mary Reilly titled A practical approach to the genetic neuropathies. Click away!