Current Therapy for Charcot-Marie-Tooth Disease

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Abstract from Curr Treat Options Neurol. 2005 Jan;7(1):23-31.

Current Therapy for Charcot-Marie-Tooth Disease. (mentions Vitamin C and

onapristone)

Grandis M, Shy ME.

Department of Neurology, Wayne State University, 4201 Saint Antoine Street,

Detroit, MI 48201, USA.

Charcot-Marie-Tooth (CMT), or heritable peripheral neuropathies, is among the

most frequent genetic neuromuscular disorders, with a prevalence of

approximately 1:2500. Since 1991, remarkable advances have occurred in

determining the precise genetic cause of many forms of CMT and in generating

animal models of many of these disorders. However, these advances have not yet

resulted in cures for CMT.

Recently, potential treatments for the most common form of CMT, CMT-1A, have

been shown in rodent models of the disorder. Treatment with onapristone, a

progesterone antagonist, has improved the neuropathy of the CMT-1A rat.

Treatment with large doses of ascorbic acid (vitamin C) has improved the

neuropathy of the CMT-1A mouse. Multicentric trials with ascorbic acid are

likely to start in the near future to assess if vitamin C supplementation is

effective and what is the dosage required in humans to improve neurologic

disability. Because of potential side effects with antiprogesterone therapy,

particularly in women of child-bearing age, research is actively proceeding with

progesterone antagonists to develop safe medications that also can be used in

clinical trials of CMT-1A.

Although no cures are available for CMT, there are many important treatments

available for patients with CMT that can improve their quality of life and help

them maintain their independence. Some of these therapies involve physiatry and

orthopedic surgery. Others involve pain management. Lastly, there are potential

concerns about medications or lifestyle issues that may exacerbate CMT. All of

these issues will be discussed.