Charcot-Marie-Tooth (CMT) disease is a neurological disorder with a number of subtypes. Because of this, no treatment is universally successful within all affected individuals. In order to get patients the best therapy for them, the CMT Research Foundation has launched a research initiative to bring precision medicine to CMT treatment.
About Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth (CMT) disease, also known as hereditary motor and sensory neuropathy, is a neurological disorder that affects the peripheral nervous system. It occurs as the result of mutations in various genes (CMT1, CMT2, CMT3), all of which result in the death of peripheral nerves. 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 foot deformities, difficulty with walking and fine motor skills, weakness in the hands and feet, and lower leg deformities. There is currently no cure for this disease, although physical and occupational therapy are used to maintain muscle strength and use. Pain medications may also be prescribed.
Precision Medicine for CMT
The idea driving the CMT Research Foundation’s program is silencing the defective gene that causes CMT and replacing it with a functioning version. They will begin with CMT type 2E, which is the result of a mutated NEFL gene.
In order to test the gene therapy, researchers will use mouse models of CMT2E who present the characteristic symptoms. The special thing about these mice is that they will carry a human version of the mutated NEFL gene. To go along with this, the gene therapy and mode of delivery use human genetic material as well.
As this approach has been used in the past for conditions like spinal muscular atrophy, researchers are excited by possible positive results. These gene therapies have the potential to better the lives of those with CMT, and researchers are hopeful that they will be able to reach patients soon.
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