Marta Figueiredo, PhD, science writer —

A single dose of a gene therapy delivering a working copy of GJB1 — the gene mutated in X-linked Charcot-Marie-Tooth type 1 disease (CMTX1) — to myelin-producing cells prevented or even reversed myelin loss and motor function impairment in a mouse model of CMTX1. Notably, these benefits were observed…

A higher number of daily steps, measured through wearable sensors, was associated significantly with more lower-body strength and functional abilities in adults with Charcot-Marie-Tooth (CMT) type 1 A disease, according to recent data from a pilot study. The findings support the use of physical activity as a future outcome…

The Hereditary Neuropathy Foundation is supporting preclinical work focused on mutations in the CNTNAP1 gene, which were linked previously to symptoms of Charcot-Marie-Tooth (CMT) disease, it announced in a press release. CMT is part of a large group of disorders called neuropathies, which are diseases characterized by nerve damage.

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…

To promote physical activity in people with Charcot-Marie-Tooth (CMT) disease, the charity CMT UK shared seven exercise videos that patients can carry out in the comfort of their home. The exercises are presented by Rebekah Knight, a physiotherapist diagnosed with CMT1A, the most common form of CMT…

The CMT Research Foundation (CMTRF) wants to turn September from Awareness Month into “CMT Action Month.” This year, the foundation is seeking to turn awareness of Charcot-Marie-Tooth (CMT) disease into action through useful and informative videos, personal fundraising pages, and a “double-your-donation” fundraising campaign. Launched in 2018…

Mutations in nine genes associated with Charcot-Marie-Tooth disease type 2 (CMT2) generally lead to similar deficits in muscle structure and function, as well as in motor neuron and muscle cell communication, a study in worms suggested. This work sheds light on the function of each gene associated with CMT2,…

The U.K.’s Medicines and Healthcare products Regulatory Agency (MHRA) has granted promising innovative medicine (PIM) designation to PXT3003 for the treatment of people with Charcot-Marie-Tooth type 1A (CMT1A) aged 16 and older. PIM designation indicates that the MHRA considers PXT3003, an experimental oral therapy developed by Pharnext, likely to…

Acceleron Pharma is discontinuing the clinical development of ACE-083, its experimental treatment candidate for Charcot-Marie-Tooth (CMT) disease, based on recent data from a Phase 2 trial. While the trial met its primary goal of showing a significant increase in patients’ muscle volume, this increase failed to translate…