CMTRF’s 11th Major Project in Less Than Three Years
ATLANTA (July 8, 2021) The CMT Research Foundation, a nonprofit focused solely on delivering treatments and cures for Charcot-Marie-Tooth, today announced it has partnered with the University of Illinois Chicago (UIC) to test a potential therapeutic for CMT1X, the second most prevalent form of CMT, behind only CMT1A.
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.
The project, which is led by Dr. Charles Abrams, Professor of Neurology and Rehabilitation at UIC, will test whether treatment with inosine may relieve CMT1X symptoms, or even change the course of the disease. 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. Keith Fargo, Chief Scientific Officer of the foundation notes, “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.”
“We are pleased to partner with Dr. Abrams and the University of Illinois Chicago to tackle this major form of CMT. With this launch, the CMT Research Foundation now has projects in all four of the major forms of CMT, along with several of the rarer types as well,” says Susan Ruediger, CEO of CMT Research Foundation. “This project is particularly exciting because it has the potential to provide evidence to support the further development of inosine as a therapeutic, which could ultimately benefit the vast majority of people with CMT1X.”
The Science
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.
“As a physician, I see many patients with CMT1X, but at the current time there are no effective medications that I can prescribe for them. As a scientist, though, I am heartened by the progress being made in understanding biological processes underlying CMT,” says Dr. Abrams, “Part of that has been gaining new insights into how and why mutations of the GJB1 gene cause CMT, and a lot of the evidence is pointing to a role for GJB1 proteins in regulating the levels of important anti-inflammatory molecules such as inosine. This project will be the first to directly test whether raising inosine levels in a CMT1X animal model will improve outcomes.”
The University of Illinois Chicago is an acclaimed research institution with 16 colleges dedicated to the discovery and distribution of knowledge. It is the city’s largest university and its only public Carnegie Research 1 institution. Its academic colleges serve more than 33,000 undergraduate, graduate and professional students. UIC is recognized as one of the best public universities and one of the most ethnically rich and culturally diverse campuses in the nation, located in the heart of Chicago.
The CMT Research Foundation is focused solely on delivering treatments and cures for CMT. Founded by two patients who are driven to expedite drug delivery to people who live with CMT globally, the organization funds research focused on drug development. The 501(c)(3) federal tax-exempt organization is supported by personal and corporate financial gifts.
