Study Testing Gene Therapy for Charcot-Marie-Tooth Disease Earns Funding from MDA and CMTA

According to a story from The Muscular Dystrophy Association (MDA), the organization alongside the Charot-Marie-Tooth Association (CMTA) has awarded grant funding totaling $276,430 to a research study that will develop a gene therapy for the X-linked form of Charcot-Marie-Tooth disease. This award is valid for a total of three years. The project will be headed by Dr. Kleopas Kleopa of the Cyprus Institute of Neurology and Genetics.

About Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease is a hereditary disorder of the peripheral nervous system. It is most characterized by a progressive loss of touch sensation and muscle tissue in several different parts of the body. The cause of this disease is usually linked to a genetic mutation, but the mutation involved varies depending on the variant of Charcot-Marie-Tooth disease. There are multiple types of Charcot-Marie-Tooth disease, with all types aside from type 2 having a demyelinization effect. Type 2 causes damage to the neuronal axon instead. Symptoms include foot drop, muscle wasting (typically in the arms, legs, and hands), painful muscle spasms, loss of sensation in the limbs, scoliosis, trouble speaking, chewing, swallowing, and tremors. Treatment typically includes therapy and surgery in order to maintain function. There is no cure. The disease can occur early in life or as late as the 30s and 40s. To learn more about Charcot-Marie-Tooth disease, click here.

Developing a Gene Therapy for CMT

Dr. Kleopa is a renowned expert in therapies. X-linked Charcot-Marie-Tooth disease is the second most common type of the disease. This form affects roughly 1 in every 25,000 people and is linked to mutations affecting the GJB1 gene. The grant funding will go towards critical proof-of-concept studies involving mouse models of the disease in order to see if an adeno-associated virus (AAV) vector-type gene therapy could be effective. The studies will also determine the most useful route of administration.

This type of gene therapy has the potential to be useful in treating a variety of neuromuscular diseases. Dr. Kleopa’s work will continue from prior research had conducted in which a spinal injection of the corrected gene was able to improve symptoms in mice.

The MDA and CMTA have collaborated since 2016 to support Charcot-Marie-Tooth disease research.


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