News

A gene therapy designed to reduce the levels of PMP22 — the protein overly produced in Charcot-Marie-Tooth disease type 1A (CMT1A) — significantly lessened functional deficits in a mouse model of the disease, a study shows. The approach, based on an artificial microRNA (miRNA) molecule, was found to significantly…

The ability to walk in children and adolescents with Charcot-Marie-Tooth (CMT) disease is similarly impaired regardless of their type of foot deformity, according to a small study. The study, “Do different foot types affect the 6-min walk test capacity of younths with Charcot-Marie-Tooth neuropathy,” was published in BMC…

The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in Cleveland, Ohio. The event, which brings together the rare disease community, will take place at the InterContinental Cleveland Conference…

Newly identified mutations in the IGHMBP2 gene have been associated with Charcot-Marie-Tooth disease type 2S (CMT2S), according to a study in China. Data also suggested that missense IGHMBP2 mutations localized in the functional domains of the resulting IGHMBP2 enzyme may be linked to more severe forms of the disease. Missense mutations…

Enrollment into Pharnext’s pivotal Phase 3 PREMIER clinical trial, testing the effectiveness and safety of PXT3003 for people with mild-to-moderate Charcot-Marie-Tooth type 1A (CMT1A), is complete. The study exceeded its target number of participants, recruiting 387 patients in 52 centers across the U.S., Canada, Europe, and Israel. Top-line…

IFB-088, a small molecule that modulates a cell’s response to stress, improved myelin formation in mouse models of Charcot-Marie-Tooth type 1 (CMT1) disease, and this translated into faster nerve signal transmission and better motor function, a study found. If the findings hold true in humans, they could lead to…

In rare cases, de novo or non-inherited mutations in one copy of the POLR3B gene can cause an early-onset demyelinating form of Charcot-Marie-Tooth disease (CMT), according to a study from Japan involving more than 800 CMT patients. While mutations in both POLR3B gene copies have been shown to cause a rare neurodevelopmental…

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…