News

Pharnext’s PXT3003, a potential treatment for Charcot–Marie–Tooth type 1A (CMT1A), continues to show sustained safety and efficacy in a Phase 3 open-label extension study. Data collected in April show that PXT3003 continues to ease disabilities, based on scores in the overall neuropathy limitations scale (ONLS), a…

Ultrasound may help diagnose and direct treatment for carpal tunnel syndrome in people with Charcot-Marie-Tooth disease type 1 subtype A (CMT1A), a case report suggests. The report, “Nerve Ultrasound Findings before and after Surgery in a Patient with Charcot-Marie-Tooth Disease Type 1A and Comorbid Carpal Tunnel Syndrome,” was…

A new genetic mutation was identified in an Italian woman with severe muscle wasting in the arms and legs due to Charcot-Marie-Tooth disease type 2 (CMT2). The finding is part of a study that described the clinical characteristics of 13 patients carrying disease-causing mutations in MFN2, a gene that…

A Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave. The treacherous, 34-hour pilgrimage that ultimately brought the group of eight by car to temporary accommodations in neighboring Poland last month was physically and emotionally difficult,…

A 12-year-old boy with Charcot-Marie-Tooth type 1 (CMT1) was found in a rare case study to carry variants in two different genes, MPZ and MFN2. The variant in MPZ has been previously described and was deemed likely the main cause of CMT in the patient, while the MFN2 variant…

Treatment with inhibitors of the HDAC6 protein, including the new compound CKD-504, was able to restore proper connections between nerves and muscles and improve movement in zebrafish with low levels of GARS — the gene implicated in Charcot-Marie-Tooth disease type 2D, a study found. The results suggest that HDAC6 blockade may…

Compared to regular footwear, customized orthopedic shoes significantly improve walking, including speed, in adults with Charcot-Marie-Tooth (CMT) disease, according to a small study in the Netherlands. However, no significant differences in postural stability while standing or walking were noted when patients wore orthopedic versus standard shoes. While orthopedic…

A low dose of a molecule known as RGFP966 boosted myelin production and improved electrical impulse conduction in nerves of a mouse model of Charcot-Marie-Tooth disease type 1 subtype A (CMT1A), a study found. RGFP966 is a selective inhibitor (blocker) of histone deacetylase 3 (HDAC3), a protein that stops myelination,…

The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…

The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues in a nod to its increased use during the ongoing COVID-19 pandemic. NORD’s report card project began seven…