Ascorbic acid for treatment in CMT1A: what's next?

摘要

So far, there are no specific therapies for Charcot-Marie-Tooth (CMT) disease. A Cochrane review1 of treatment for CMT showed that trials of exercise, orthosis, creatine, and ganglioside injections were too small to identify moderate benefit or harm, although a small trial with neurotrophin-3 showed possible benefit in CMT type 1A (CMT1A). Several trials have recently been undertaken after the finding that ascorbic acid is effective in transgenic mice overexpressing peripheral myelin protein 22 (PMP22), an animal model of human CMT1A.2 Treated animals, aged 2-4 months, showed remyelination on nerve biopsy and improved locomotor function compared with untreated controls. Three phase 2 trials of patients with CMT1A investigated the effect of ascorbic acid over 1 year and reported negative results. Two of the trials had motor conduction nerve velocity as the primary outcome, and in one trial the CMT neuropathy score (CMTNS) was used.