According to Charcot-Marie-Tooth News, the CMT Research Foundation has announced that they will provide additional funding for the development of a gene therapy for Charcot-Marie-Tooth disease Type 1 (CMT1A). The money granted to this project will go towards both the preclinical and clinical trial portions of development.
About CMT
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. In this case, CMT1A is the result of an extra PMP22 gene, which is passed down in an autosomal dominant pattern.
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.
Funding for CMT Research
The Charcot-Marie-Tooth Research Foundation has been funding research into this gene therapy since 2019. Money was used to evaluate various genetic sequences and their impacts on mice with CMT1A. After just one month, researchers noted that PMP22 levels were reduced, muscle strength and motor skills improved, and nerve structure was bettered.
The research being funded will be led by Dr. Kleopas Kleopa of the Cyprus Institute of Neurology and Genetics. Along with his team, he will research a gene therapy that is intended to lower levels of the PMP22 protein. Additionally, they will investigate possible biomarkers of the neurological disorder, such as neurofilament light chain.
Hopefully, the development of this gene therapy goes well, as CMT patients face an unmet medical need and would benefit from another treatment option. It would also spur further work in the rare disease field for Dr. Kleopas and his team.
