Rare Daily Staff

The CMT Research Foundation, a nonprofit focused solely on delivering treatments and cures for Charcot-Marie-Tooth, said it has partnered with the University of Illinois Chicago to test an experimental therapy, CMT1X, as a treatment for the second most prevalent form of Charcot-Marie Tooth.

Charcot-Marie Tooth (CMT) is one of the most common inherited neurological disorders, affecting about 3 million people across the globe. People with CMT experience loss of sensation and/or numbness in the legs and arms, muscle weakness and wasting, and foot deformities. Because CMT is progressive, patients continue to lose function as they age, creating a greater degree of disability. Currently, there is no cure or any effective treatment for this disorder.

Charles Abrams, professor of Neurology and Rehabilitation at UIC, will lead the work, which will test whether treatment with inosine may relieve CMT1X symptoms, or even change the course of the disease.

CMT1X is caused by mutations of the gap junction beta 1 (GJB1) gene. This gene contains the code for connexin 32, a protein that normally forms channels that allow ions and signaling molecules to pass between cells or from the inside of the cell to the external environment. However, mutations of the gene cause these proteins to become dysfunctional. Because these channels are normally found in Schwann cells, the cells that produce the myelin sheath in the peripheral nervous system, this leads to peripheral nerve dysfunction and degeneration.

Inosine is an anti-inflammatory small molecule, and its levels are reduced in animal models of CMT1X. It is hypothesized that lower inosine levels may play a role in the nerve inflammation seen in people with CMT1X and that raising inosine levels may have therapeutic benefit. This project will test these ideas, and if successful, will culminate in a trial of inosine therapy in mice with a genetic mutation that causes CMT1X.

Inosine, widely available as a supplement, is also being studied as a potential therapeutic for Parkinson’s disease and multiple sclerosis, two other degenerative diseases of the nervous system. However, the CMT Research Foundation cautions those with CMT about using inosine before more research is completed.

“As a science-based organization, we do not recommend that people take supplements that have not yet been tested in clinical trials, which is the only way to know whether they will be effective, let alone safe, for people with CMT,” said Keith Fargo, chief scientific officer of the foundation.

Photo: Keith Fargo, chief scientific officer of the CMT Research foundation.

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