Andrea Lobo,  —

Mutations in the GJB1 gene affecting transmembrane, or cell membrane-spanning, regions of the connexin-32 protein are associated with more severe disease in people with X-linked Charcot-Marie-Tooth disease type 1 (CMTX1). That’s according to a study in France, which also demonstrated that patients with mutations affecting other protein regions usually…

An orthopedic surgeon at the University of Iowa has been awarded the 2025 Inherited Neuropathy Fellowship to advance her research on foot mobility and intervention in people with Charcot-Marie-Tooth (CMT) disease. The recipient of this year’s fellowship is Bopha Chrea, MD. Chrea’s work focuses on the effective use of…

The Charcot-Marie-Tooth Association (CMTA) is funding two research projects to accelerate the development of genetic therapies for less common forms of Charcot-Marie-Tooth disease (CMT), CMT types 2A and 4B1. The investment is part of the association’s Strategy to Accelerate Research program, known as CMTA-STAR. One project, supported…

The U.S. Food and Drug Administration (FDA) has granted orphan drug status to Encell’s EN001, an investigational stem cell therapy for Charcot-Marie-Tooth disease (CMT). This designation is intended to accelerate the development of therapies designed to prevent, diagnose, or treat rare diseases…

The use of 3D-printed, customized ankle braces may improve balance and reduce foot pain in people with Charcot-Marie-Tooth (CMT) disease, according to a recent pilot study in New Zealand. Although patients reported variable levels of comfort and satisfaction, they generally said the braces were moderately comfortable, and were moderately…

The CMT Research Foundation (CMTRF) has raised more than its $10 million goal for the Endgame campaign to support research toward treatments for Charcot-Marie-Tooth disease type 1A (CMT1A). The foundation announced the results at the annual Global CMT Research Convention, which took place Sept. 26-28 in…

Cochlear implants are a safe and reliable way to improve hearing, speech, and quality of life for people with Charcot-Marie-Tooth disease (CMT), according to a case series. This study provides “more evidence supporting the potential benefit of cochlear implantation among CMT patients,” researchers wrote. “The present analysis is also…

The CMT Research Foundation (CMTRF) has invested in a project at Vanderbilt University School of Medicine Basic Sciences for potential new treatments for Charcot-Marie-Tooth disease type 1A (CMT1A). The project will be conducted by Charles Sanders, PhD, a biochemistry and medicine professor and vice dean at Vanderbilt. Sanders’…

Oryzon Genomics has chosen ORY-4001, a selective histone deacetylase 6 (HDAC6) inhibitor, for clinical development as a potential treatment for Charcot-Marie-Tooth (CMT) disease and other neurological conditions. HDAC6 enzyme inhibitors have shown promise for CMT, amyotrophic lateral sclerosis, and other neurological diseases, Oryzon states. ORY-4001 will now…

A measure of the distribution of demyelination — myelin loss — may improve the diagnosis of demyelinating Charcot-Marie-Tooth disease (CMT) and better distinguish it from a related rare disease, a study in Japan found. Specifically, the compound muscle action potential (CMAP) duration ratio was significantly lower in people with CMT…