CMTA Grants Researchers $1.1M to Advance Trials in CMT1X, CMT2A

The Charcot-Marie-Tooth Association (CMTA) has awarded $1.1 million to help scientists advance clinical trials evaluating potential treatments for CMT1X — a subtype comprising 15% of all cases among this group of inherited disorders — and CMT2A, which affects about 5% of people with the disease.

This new funding brings to more than $17 million the total awarded under the banner Strategy to Accelerate Research or STAR, launched by the CMTA in 2008 to fund research in Charcot-Marie-Tooth disease, known as CMT.

STAR brings together a global network of biotech research partners, research scientists, clinicians, and patients. The CMTA said it is planning an additional investment of $10 million into clinical research through the program during the next few years, according to a press release.

CMT affects the peripheral nervous system, the network of nerves that supply movement and sensation to the arms and legs. Because it usually evolves slowly, there is a need for appropriate disease biomarkers that can measure changes during clinical trials — and show quickly and precisely if potential treatments are working.

Now, Michael Shy, MD, a neurologist at the University of Iowa, and John Svaren, PhD, a researcher from the University of Wisconsin, have been awarded a two-year grant of $601,407 for their work on CMT1X. The pair will use the funds to investigate blood biomarkers, outcome measures for clinical trials, and a so-called NanoString technology to analyze skin biopsies. This procedure, designed to remove skin samples for analysis, will be used in 60 patients with CMT1X, the association said.

CMT1X is a subtype caused by mutations in the GJB1 gene, located on the X chromosome. Defects in GJB1 affect the production of a protein called connexin-32, resulting in the loss of the protective myelin sheath covering nerve cells and disturbing the way nerve cells communicate with each other.

A second grant of $559,555 will allow the same researchers, Shy and Svaren, to start a project with a similar approach for the preparation of clinical trials in CMT2A.

CMT2A, which affects about 5% of all CMT patients and up to 25% of those with CMT2, is caused by mutations in the MFN2 gene that lead to degeneration of muscle-controlling nerve cells.

“The findings from the two projects will be critical in advancing clinical trials for CMT1X and CMT2A,” the association said.

Shy also is a lead researcher for the Inherited Neuropathies Consortium (INC) and had previously received a CMTA grant of $206,000 supporting INC’s quest to find therapies for those with inherited disorders of peripheral nerves.

INC was formed by a group of academic medical centers in the U.S. and abroad, along with patient support organizations, and clinical research resources. It focuses on conducting trials in different forms of CMT, with the goal of improving patient care.

According to the CMTA, the STAR program also intends to conduct natural history studies of CMT progression, test potential biomarkers, establish a patient registry, help share useful information with patients, and provide support and resources to young investigators committed to a career in CMT.

To learn more about these clinical studies and participate, please follow updates here.