Experimental Charcot-Marie-Tooth Disease Treatment Looks Promising

This week Hallmark Movies and Mysteries premiered The Christmas Bow, which features Joy Perry, a woman with Charcot-Marie-Tooth disease, playing a woman with CMT.

And while CMT has been known for years by the names of the three doctors (Charcot, Marie and Tooth) whose early work on the disease led to its unique and at times confusing nomenclature, it is now also being called hereditary motor and sensory neuropathy (HMSN).

There is currently no cure for this disease, but there are active and informed patient advocacy groups: The Charcot-Marie-Tooth Association (CMTA), the Hereditary Neuropathy Foundation, the Foundation for Peripheral Neuropathy, and the Muscular Dystrophy Association.

CMT is genetically complex. Depending on which gene is affected, this condition can be inherited in an autosomal dominant or recessive pattern. There is also an X-linked version of the disease which is passed down through mutations of the GJB1 gene. Regardless of inheritance, affected individuals may experience difficulty with walking and fine motor skills, weakness in the hands and feet, and lower leg deformities.

While there is hope for a cure through gene therapy in the future, there is a much more immediate hope for a treatment that may become FDA approved, and hence widely available, in the next few years.

Patient Worthy had the opportunity of speaking with Dr. David Horn Solomon, CEO of Pharnext, who explained that

Dr. David Horn Solomon.

there are currently 133 patients in an open label extension study of their twice daily oral medication for CMT. This medication, known for now as PXT3003, is a combination of 3 ingredients: baclofen, naltrexone and sorbitol.  Each ingredient is a fixed dose, and together it is hoped that it will lead to improvement in the neuronal signaling in dysfunctional peripheral nerves.

People with CMT often have increasing difficulty over time, and their ability to participate in the activities of daily living, from turning a key in a lock to navigating a trip through the house, tends to decrease. Early next year there will be a second phase three clinical trial of PXT3003 vs placebo. The treatment will be evaluated using the Overall Neuropathy Limitations Scale (ONLS). As so many patients opted to remain on the medication after the first phase three trial, we are optimistic that this unique combination will indeed be clinically helpful. More information on the trial will be available as soon as the 48 international trial sites are identified.

Click here to learn more about Pharnext.

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