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…
Wearable sensors used in the home effectively captured data on physical function that correlated with measures of disease severity taken in the clinic for adults with Charcot-Marie-Tooth disease (CMT), data show. Such remote monitoring tools can aid in understanding how CMT affects patients in daily life, and may supplement…
The Muscular Dystrophy Association‘s (MDA) annual Clinical & Scientific Conference kicked off over the weekend, bringing together patients, caregivers, researchers, clinicians, academics, advocates, and industry leaders to discuss the latest in science and care related to a range of neuromuscular diseases. This year’s conference will bring together hundreds…
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…
Note: This story has been updated March 6, 2025, to correct a quote from Mindy Henderson, MDA vice president of disability outreach and empowerment. The Muscular Dystrophy Association (MDA) is once again hosting its annual gathering, the MDA Clinical & Scientific Conference. The 2025 event will take place…
The CMT Association is investing $423,000 in the Genesis database to help improve diagnoses of Charcot-Marie-Tooth disease (CMT). The investment, part of the association’s Strategy to Accelerate Research program known as CMTA-STAR, is intended to help researchers in identifying additional genes whose mutations are causes of CMT.
The U.S. Food and Drug Administration (FDA) has granted orphan drug status to investigational oral therapy NMD670 to treat Charcot-Marie-Tooth disease (CMT). Orphan drug designation is given to therapies designed to prevent, diagnose, or treat rare diseases, defined as one affecting fewer than 200,000 people in the U.S. The…
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…
Get regular updates to your inbox.