Marta Figueiredo, PhD,  science writer—

A rare mutation in the myelin protein zero (MPZ) gene leads to higher-than-normal levels of the MPZ protein and is associated with an intermediate form of Charcot-Marie-Tooth disease (CMT), a study in China shows. Notably, the mutation, affecting four generations of a Chinese family, was present in only one MPZ gene copy,…

The investigational gene therapy Engensis (VM202) was generally safe and showed signs of effectiveness at easing sensory neuropathy, or nerve damage, and improving muscle health in people with Charcot-Marie-Tooth disease type 1A (CMT1A), according to data from a Phase 1 clinical trial. A larger Phase 2 trial is…

People with Charcot-Marie-Tooth disease type 1A (CMT1A) show a poorer performance in cardiopulmonary exercise testing using a stationary bicycle relative to healthy individuals, a study shows. Cardiopulmonary exercise testing (CPET) is a non-invasive assessment of the cardiopulmonary system at rest and during exercise. Notably, this poorer performance appeared to be…

The Charcot-Marie-Tooth Association (CMTA) will hold its 20th annual Patient/Family Conference — designed to empower and connect the Charcot-Marie-Tooth community and share the latest scientific breakthroughs and resources in managing the disease — virtually on Nov. 6. This marks the second year in a row that the conference will…

Mutations in a particular region of the neurofilament heavy chain or NEFH gene cause an atypical, more severe form of Charcot-Marie-Tooth disease, called type 2CC or CMT2CC, according to a study reporting the cases of 30 patients from eight unrelated families. Notably, the presentation and progression of this subtype more…

A newly identified mutation in the ATP1A1 gene associated with an intermediate form of Charcot-Marie-Tooth disease (CMT) was found in an adolescent in Spain, scientists report. The mutation, detected through genetic analysis of CMT patients in a specific region of Spain, adds to the increasing number of ATP1A1 mutations…

Two approved compounds, the antibiotic florfenicol or the MitoQ antioxidant supplement, prevented symptom development in a mouse model of Charcot-Marie-Tooth disease (CMT) caused by mutations in the GDAP1 gene, a study shows. Notably, these benefits were associated with a reduction in oxidative stress, an imbalance between the production of…

Abnormalities in cellular transport and in mitochondria (the cell’s powerhouses) are a common feature of motor neurons derived from people with four different subtypes of Charcot-Marie-Tooth disease type 2 (CMT2), a study shows. Notably, treatment with a suppressor of DLK — a molecule involved in mitochondrial damage and transport…

NMD Pharma, in collaboration with Aarhus University in Denmark and The Ohio State University, initiated an observational study to assess whether Charcot-Marie-Tooth disease (CMT) patients have deficits in the communication between nerve and muscle cells. If confirmed, the company plans to launch clinical trials testing one of its experimental…

Researchers identified double disease-causing HSPB1 mutations in two unrelated adults with Charcot-Marie-Tooth disease type 2 subtype F (CMT2F), according to a case report. While mutations in the HSPB1 gene have been associated with CMT2F, they are usually found in only one of the gene’s copies, in which case it’s…